sign in sign up
<<
Home , AK2, ALG1, ALG12, ALG2, ALG3, ALG6

BAYLOR MIRACA LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411- | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM PATIENT INFORMATION NAME (LAST,FIRST, MI): DATE OF BIRTH (MM/DD/YY):

HOSPITAL#: ACCESSION#: REPORTING INFORMATION ADDITIONAL PROFESSIONAL REPORT RECIPIENTS : NAME:

INSTITUTION: PHONE: FAX:

PHONE: FAX: NAME:

EMAIL (INTERNATIONAL CLIENT REQUIREMENT): PHONE: FAX: SAMPLE INFORMATION CLINICAL INDICATION FETAL SPECIMEN TYPE Pregnancy at risk for specific DATE OF COLLECTION: (Complete FAMILIAL information below) Amniotic Fluid: cc AMA PERFORMING PHYSICIAN: CVS: mg TA TC Abnormal Maternal Screen: Fetal Blood: cc GESTATIONAL AGE (GA) Calculation for AF-AFP* NTD TRI 21 TRI 18 Other: SELECT ONLY ONE: Abnormal NIPT (attach report): POC/Fetal Tissue, Type: TRI 21 TRI 13 TRI 18 Other: Cultured Amniocytes U/S DATE (MM/DD/YY): Abnormal U/S (SPECIFY): Cultured CVS GA ON U/S DATE: WKS DAYS PARENTAL BLOODS - REQUIRED FOR CMA -OR- Maternal Blood Date of Collection: Multiple Pregnancy Losses LMP DATE (MM/DD/YY): Parental Concern Paternal Blood Date of Collection: Other Indication (DETAIL AND ATTACH REPORT): *Important: U/S dating will be used if no selection is made. Name: Note: Results will differ depending on method checked. Last Name First Name U/S dating increases overall screening performance. Date of Birth: KNOWN FAMILIAL MUTATION/DISORDER SPECIFIC PRENATAL TESTING Notice: Prior to ordering testing for any of the disorders listed, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor. Please call 713-798-6555. Specimen Requirements/Orders discussed with (NAME OF BMGL GENETIC COUNSELOR): Date:

Additional Cultures to be sent later: YES NO Cultures will be sent from (NAME OF LABORATORY):

GENE NAME: FAMILIAL MUTATION REPORT MUST BE ATTACHED BMGL FAMILY #: PLEASE MARK CORRESPONDING GENE RELATED DISORDER ON PAGES 3-11 WAS CARRIER TESTING PERFORMED THROUGH GeneAware? YES NO NOTICE FOR PRENATAL BIOCHEMICAL AND DNA TESTS: Please be aware that our specimen requirements and quality control measures are compliant with the American College of (ACMG) Standards and Guidelines for Clinical Genetics Laboratories. While these requirements are intended to provide the highest level of assurance that a single laboratory can offer, the ideal practice to assure the accuracy of prenatal diagnosis testing is through duplicate testing conducted by independent laboratories. We recommend that referring medical professionals make the necessary arrangements for these two independent analyses for their patients prior to performing the prenatal diagnostic procedure.

PHYSICIAN/COUNSELOR ACKNOWLEDGEMENT:______OTHER PRENATAL TESTING OPTIONS For Disorder Specific Testing, please see following pages. IMPORTANT INSTRUCTIONS FOR CMA: Parental Bloods (Draw 5-7 cc in an EDTA tube) are required for CMA. Label with NAME and DOB and complete Parental Bloods Information above. CMA OPTIONS (Select one): ANALYSIS TARGETED CMA (180K oligo copy number and targeted chrom SNP array) ANEUPLOIDY FISH (24-48hrs for 13,18,21, X and Y) TARGETED CMA + LIMITED CHROMOSOME ANALYSIS (5 cell ) AF-AFP EXPANDED CMA (400K oligo copy number and all chrom SNP array) AChE EXPANDED CMA + LIMITED CHROMOSOME ANALYSIS (5 cell karyotype) COL1A1 & COL1A2 -RELATED DISORDERS PANEL (see page 2) *Cultured Fetal Samples are not accepted for CMA Comprehensive Options. NOONAN SPECTRUM DISORDERS PANEL (see page 2) REQUIRED: NEW YORK STATE PHYSICIAN SIGNATURE OF CONSENT I certify that the patient specified above and/or their legal guardian has been informed of the benefits, risks, and limitations of the laboratory test(s) requested. I have answered this person's questions. I have obtained informed consent from the patient or their legal guardian for this testing.

Physician's Printed Name: ______Signature: ______Date (MM/DD/YY): ______Page 1 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

NOONAN SPECTRUM DISORDERS TESTING This prenatal panel is intended for fetal samples with ultrasound findings suggestive of Noonan Spectrum Disorders. Please see the website for fetal specimen information.

Specimen Requirements/Orders discussed with (NAME OF BMGL GENETIC COUNSELOR): Date:

Cultures to be sent later: YES NO Cultures will be sent from (NAME OF LABORATORY):

BIOLOGICAL PARENTS SAMPLES are required for fetal testing. Send 5-7 cc in EDTA. Be sure to label parental samples with full name and date of birth. If parental blood is also submitted for CMA no additional blood is needed 21401: MOTHER (FULL NAME): DOB: / / LAST NAME FIRST NAME MM DD YY

Does this parent have features of Noonan Syndrome?

ASYMPTOMATIC SYMPTOMATIC - attach summary of findings or describe here:

DATE OF COLLECTION (MM/DD/YY): NOT AVAILABLE TO BE SENT LATER*

21401: FATHER (FULL NAME): DOB: / / LAST NAME FIRST NAME MM DD YY

Does this parent have features of Noonan Syndrome?

ASYMPTOMATIC SYMPTOMATIC - attach summary of findings or describe here:

DATE OF COLLECTION (MM/DD/YY): NOT AVAILABLE TO BE SENT LATER*

*If parent samples are to be sent later, please include copy of this requisition form with those samples.

COL1A1 & COL1A2 -RELATED DISORDERS TESTING This prenatal panel is intended for fetal samples with ultrasound findings suggestive of COL1A1 & COL1A2 - Related Disorders. Please see the website for fetal specimen information.

Specimen Requirements/Orders discussed with (NAME OF BMGL GENETIC COUNSELOR): Date:

Cultures to be sent later: YES NO Cultures will be sent from (NAME OF LABORATORY):

BIOLOGICAL PARENTS SAMPLES are required for fetal testing. Send 5-7 cc in EDTA. Be sure to label parental samples with full name and date of birth. If parental blood is also submitted for CMA no additional blood is needed 2626: MOTHER (FULL NAME): DOB: / / LAST NAME FIRST NAME MM DD YY

Does this parent have features of COL1A1 or COL1A2 condition?

ASYMPTOMATIC SYMPTOMATIC - attach summary of findings or describe here:

DATE OF COLLECTION (MM/DD/YY): NOT AVAILABLE TO BE SENT LATER*

2626: FATHER (FULL NAME): DOB: / / LAST NAME FIRST NAME MM DD YY

Does this parent have features of COL1A1 or COL1A2 condition?

ASYMPTOMATIC SYMPTOMATIC - attach summary of findings or describe here:

DATE OF COLLECTION (MM/DD/YY): NOT AVAILABLE TO BE SENT LATER*

*If parent samples are to be sent later, please include copy of this requisition form with those samples.

Page 2 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

2,4-Dienoyl-CoA Reductase Deficiency DECR1 ATP5A1-Related Disorders 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency HSD17B10 ATP6V0A2-Related Disorders 3-Hydroxy-3-Methylglutaryl CoA Deficiency HMGCL Autoimmune Polyendocrinopathy 1 (APECED) AIRE 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency HMGCS2 Autosomal Recessive Congenital , TGM1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC1-Related Autosomal Recessive Polycystic Kidney PKHD1 3-Methylcrotonyl-CoA Carboxylase Deficiency, MCCC2-Related B4GALT7-Related Disorders 3-Methylglutaconic Aciduria Type 1, AUH-Related BAG3-Related Disorders ABCA4-Related Disorders Bardet-Biedl Syndrome 1, BBS1 ABCC8-Related Disorders (Diabetes Mellitus, Permanent Neonatal) Bardet-Biedl Syndrome 2, BBS2 ACACA-Related Disorders Bardet-Biedl Syndrome 4, BBS4 ACACB-Related Disorders ACTA1-Related Disorders Bardet-Biedl Syndrome 5, BBS5 Acute Myeloid CEBPA Bardet-Biedl Syndrome 7, BBS7 Acute Recurrent Myoglobinuria, LPIN1-Related Bardet-Biedl Syndrome 9, BBS9 Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency ACADSB Bardet-Biedl Syndrome 10, BBS10 Adenine Phosphoribosyltransferase Deficiency APRT Bardet-Biedl Syndrome 12, BBS12 Deficiency Bardet-Biedl Syndrome 15, WDPCP Adenylosuccinase Deficiency ADSL ABCD1 Bardet-Biedl Syndrome 17, LZTFL1 AKT2-Related Disorders Bardet-Biedl Syndrome, Modifier of, CCDC28B Alagille Syndrome JAG1 Bare Lymphocyte Syndrome Type I TAP1 Alpha-Mannosidosis MAN2B1 Bare Lymphocyte Syndrome Type II RFX5 ALPL-Related Disorders (Hypophosphatasia) Bare Lymphocyte Syndrome Type II, CGA, CIITA AMACR-Related Disorders Bare Lymphocyte Syndrome Type II, CGD, RFXAP Amish Lethal Microcephaly SLC25A19 (THMD3) TAZ Androgen Insensitivity Syndrome AR Beta-Thalassaemia/Sickle Cell Anemia HBB UBE3A BH4-Deficient Hyperphenylalaninemia A PTS Angelman-Like Syndrome, X-Linked SLC9A6 (NHE6) Deficiency (BTD) ANKH-Related Disorders BLM ANO5-Related Disorders BMPR1A-Related Disorders APC-Associated Polyposis Conditions Brain Malformation, WDR62-Related Deficiency ARG1 BRCA1-Related Disorders Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria) ASL BRCA2-Related Disorders ARL6-Related Disorders Breast Cancer BARD1 ARSACS SACS Breast-Ovarian Cancer RAD51D Arylsulfatase A Deficiency (Metachromatic Leukodystrophy) ARSA BRIP1-Related Disorders ARX-Related Disorders Bruck Syndrome 2 PLOD2 Aspartylglycosaminuria AGA BCS1L-Related Disorders (Complex III Deficiency; GRACILE Syndrome) , early-onset, with oculomotor apraxia and hypoalbuminemia APTX Buschke-Ollendorff Syndrome LEMD3 Ataxia, Posterior Column, with FLVCR1 C10orf2/TWINKLE-Related Disorders Ataxia,Telangiectasia-like Disorder MRE11A Camurati-Engelmann Disease TGFB1 Ataxia with Vitamin E Deficiency TTPA Canavan Disease ASPA Atelosteogenesis Type 2 (SLC26A2-Related Disorders) SLC26A2 (DTDST) Carbamoyl Phosphate Synthetase I Deficiency CPS1 ATM-Related Disorders (Ataxia-Telangiectasia) Cardiofaciocutaneous Syndrome BRAF

Page 3 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Cardiofaciocutaneous Syndrome KRAS COL6A1-Related Disorders Cardiofaciocutaneous Syndrome MAP2K1 COL6A2-Related Disorders Cardiofaciocutaneous Syndrome MAP2K2 COL6A3-Related Disorders Carnitine-Acylcarnitine Deficiency SLC25A20 (CACT) Combined Oxidative Phosphorylation Deficiency 1, GFM1-Related Carnitine Deficiency, Systemic SLC22A5 (OCTN2) Combined Oxidative Phosphorylation Deficiency 2, MRPS16-Related Carnitine Palmitoyltransferase IA Deficiency CPT1A Combined Oxidative Phosphorylation Deficiency 3, TSFM-Related Carnitine Palmitoyltransferase II Deficiency CPT2 Combined Oxidative Phosphorylation Deficiency 4, TUFM-Related CASP8-Related Disorders Combined Oxidative Phosphorylation Deficiency 5, MRPS2-Related CAV3-Related Disorders Combined Oxidative Phosphorylation Deficiency 5, MRPS22-Related CD247-Related Disorders Combined Oxidative Phosphorylation Deficiency 7, C12orf65-Related CD8 Deficiency, Familial CD8A Combined Oxidative Phosphorylation Deficiency 8, AARS2-Related Complex I Deficiency, ACAD9-Related CDC73 -Related Disorders Complex I Deficiency, FOXRED1-Related CDH1-Related Disorders Complex I Deficiency, NDUFA1-Related CDH23-Related Disorders (Usher Syndrome 1D) Complex I Deficiency, NDUFA2-Related CDKL5-Related Disorders Complex I Deficiency, NDUFA8-Related CDKN1C-Related Disorders Complex I Deficiency, NDUFA10-Related CDKN2A-Related Disorders Complex I Deficiency, NDUFA11-Related Centronuclear MTMR14 Complex I Deficiency, NDUFA13-Related Centronuclear Myopathy 3 MYF6 Complex I Deficiency, NDUFAF1-Related Centronuclear Myopathy 4 CCDC78 Complex I Deficiency, NDUFAF2-Related Centronuclear Myopathy, Autosomal Recessive BIN1 Complex I Deficiency, NDUFAF3-Related Cerebrotendinous Xanthomatosis CYP27A1 Complex I Deficiency, NDUFAF4-Related CFTR-Related Disorders (Cystic Fibrosis) Complex I Deficiency, NDUFAF5-Related CHD7-Related Disorders (CHARGE Syndrome) Complex I Deficiency, NDUFB6-Related Chediak-Higashi Syndrome LYST Complex I Deficiency, NDUFB8-Related CHEK2-Related Disorders Complex I Deficiency, NDUFS1-Related CHRNA1-Related Disorders Complex I Deficiency, NDUFS2-Related CHRNA7-Related Disorders Complex I Deficiency, NDUFS3-Related CHRNB1-Related Disorders Complex I Deficiency, NDUFS4-Related CHRND-Related Disorders Complex I Deficiency, NDUFS6-Related Citrin Deficiency SLC25A13 (CTLN2) I ASS1 Complex I Deficiency, NDUFS7-Related Cleidocranial Dysplasia RUNX2 Complex I Deficiency, NDUFS8-Related CLRN1-Related Disorders (Usher Syndrome 3A; Retinitis Pigmentosa) Complex I Deficiency, NDUFV1-Related Coenzyme Q10 Deficiency ADCK3(CABC1) Complex I Deficiency, NDUFV3-Related Coenzyme Q10 Deficiency COQ2 Complex I Deficiency, NUBPL-Related Coenzyme Q10 Deficiency COQ6 Complex II Deficiency, SDHA-Related Coenzyme Q10 Deficiency COQ9 Complex II Deficiency, SDHAF1-Related Coenzyme Q10 Deficiency PDSS1 Complex II Deficiency, SDHB-Related Coenzyme Q10 Deficiency PDSS2 Complex III Deficiency, TTC19-Related COG6-Related Disorders Complex III Deficiency, UQCRB-Related COL1A1-Related Disorders Complex III Deficiency, UQCRQ-Related COL1A2-Related Disorders Complex IV (COX) Deficiency, COX4I1-Related COL2A1-Related Disorders Complex IV (COX) Deficiency, COX4I2-Related Page 4 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Complex IV (COX) Deficiency, COX6B1-Related Congenital Disorders of CDG2K, TMEM165-Related Complex IV (COX) Deficiency, COX7A1-Related Congenital Disorders of Glycosylation CDG2M, SLC35A2 (UGALT)-Related Complex IV (COX) Deficiency, COX10-Related Congenital Generalized Lipodystrophy Type 4 PTRF Congenital due to ITGA7 Deficiency ITGA7 Complex IV (COX) Deficiency, SCO1-Related Congenital Muscular Dystrophy, Megaconial Type CHKB Complex IV (COX) Deficiency, SCO2-Related Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Complex IV (COX) Deficiency, SURF1-Related Anomalies Type A 8 POMGNT2 Complex IV (COX) Deficiency, TACO1-Related Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Complex V Deficiency, ATPAF2-Related Anomalies Type A 10 TMEM5 Complex V Deficiency, ATP5E-Related Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Compton-North CNTN1 Anomalies Type A 11 B3GALNT2 Cone-rod Dystrophy 15 CDHR1 Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 12 POMK Congenital Adrenal Hyperplasia CYP11B1 Congenital Myasthenia with Tubular Aggregates 1 GFPT1 Congenital Adrenal Hyperplasia CYP17A1 Congenital Myasthenic Syndrome, AGRN-Related Congenital Amegakaryocytic MPL Congenital Myasthenic Syndrome, ALG14-Related Congenital Bile Acid Synthesis Defect 2 AKR1D1 Congenital Myasthenic Syndrome, CHAT-Related Congenital Disorders of Glycosylation CDG1A, PMM2-Related Congenital Myasthenic Syndrome, CHRNE-Related Congenital Disorders of Glycosylation CDG1B, MPI-Related Congenital Myasthenic Syndrome, DOK7-Related Congenital Disorders of Glycosylation CDG1C, ALG6-Related Congenital Myasthenic Syndrome, MUSK -Related Congenital Disorders of Glycosylation CDG1D, ALG3-Related Congenital Myasthenic Syndrome, RAPSN-Related Congenital Disorders of Glycosylation CDG1E, DPM1-Related Congenital Myopathy PTPLA HRAS Congenital Disorders of Glycosylation CDG1F, MPDU1-Related COX15-Related Disorders Congenital Disorders of Glycosylation CDG1G, ALG12-Related CP-Related Disorders Congenital Disorders of Glycosylation CDG1H, ALG8-Related CPT1B-Related Disorders Congenital Disorders of Glycosylation CDG1I, ALG2-Related Transporter (CRTR) Deficiency SLC6A8 (CT1) Congenital Disorders of Glycosylation CDG1K, ALG1-Related Crigler-Najjar Syndrome UGT1A1 Congenital Disorders of Glycosylation CDG1L, ALG9-Related CRYAB-Related Disorders Congenital Disorders of Glycosylation CDG1M, DOLK-Related Cutaneous Malignant Melanoma 3 CDK4 Congenital Disorders of Glycosylation CDG1N, RFT1-Related CYP1B1-Related Disorders (Primary Congenital Glaucoma) Congenital Disorders of Glycosylation CDG1O, DPM3-Related CTNS Congenital Disorders of Glycosylation CDG1P, ALG11-Related LAMP2 Congenital Disorders of Glycosylation CDG1R, DDOST-Related Deafness--Optic Neuropathy TIMM8A Congenital Disorders of Glycosylation CDG1S, ALG13-Related Desmoplastic Medulloblastoma SUFU Congenital Disorders of Glycosylation CDG1U, DPM2-Related DES-Related Disorders Congenital Disorders of Glycosylation CDG1V, NGLY1-Related DGUOK Sequence Analysis Congenital Disorders of Glycosylation CDG2A, MGAT2-Related Diamond-Blackfan Anemia RPS19 Congenital Disorders of Glycosylation CDG2B, MOGS-Related Digenic Fascioscapulohumeral Muscular Dystrophy 2 SMCHD1 Congenital Disorders of Glycosylation CDG2C, SLC35C1 (FUCT1)-Related DiGeorge Syndrome TBX1 Congenital Disorders of Glycosylation CDG2D, B4GALT1-Related Dihydrolipoamide Dehydrogense Deficiency DLD Congenital Disorders of Glycosylation CDG2E, COG7-Related Dihydropyrimidine Dehydrogenase Deficiency DPYD Congenital Disorders of Glycosylation CDG2F, SLC35A1 (CST)-Related DNA replication helicase/nuclease 2 deficiency, metabolic myopathy DNA2 Congenital Disorders of Glycosylation CDG2G, COG1-Related DNM2-Related Disorders Congenital Disorders of Glycosylation CDG2H, COG8-Related Congenital Disorders of Glycosylation CDG2I, COG5-Related DOCK8-Related Disorders Congenital Disorders of Glycosylation CDG2J, COG4-Related DPAGT1-Related Disorders Page 5 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

DYSF-Related Disorders GAMT Deficiency GAMT TINF2 GATA2-Related Disorders Dystrophinopathies (Duchenne/Becker) DMD GATA6-Related Disorders Early-Onset Distal Myopathy KLHL9 GATM Deficiency (: Amidinotransferase Deficiency) GATM Early-Onset Myopathy, Areflexia, Respiratory Distress, and Gaucher Disease GBA (EMARDD) MEGF10 GBE1-Related Disorders Ehlers-Danlos Syndrome, Classic Type COL5A1 GCK -Related Disorders Ehlers-Danlos Syndrome, Classic Type COL5A2 GJB2-Related Hearing Loss and Deafness Ehlers-Danlos Syndrome, Kyphoscoliotic form PLOD1 -6-Phosphate Dehydrogenase Deficiency G6PD Ehlers-Danlos Syndrome Type IV COL3A1 Glucose Transporter Type 1 Deficiency Syndrome SLC2A1 (GLUT1) Ehlers-Danlos Syndrome, Spondylocheiro Dysplastic Form SLC39A13 (ZnT) Glutaric Acidemia Type 1 GCDH Emery-Dreifuss Muscular Dystrophy 1, X-Linked EMD Glutaric Acidemia Type 3 C7orf10 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant SYNE2 AMT Endplate Acetylcholinesterase Deficiency COLQ Glycogen Storage Disease Type 0, Liver Isoform GYS2 Epileptic Encephalopathy, Early Infantile, Type 4 STXBP1 Glycogen Storage Disease Type 0, Muscle Isoform GYS1 Epileptic Encephalopathy, Early Infantile, Type 7 KCNQ2 Glycogen Storage Disease Type 1a G6PC Erythrocytic AMP Deaminase Deficiency AMPD3 Glycogen Storage Disease Type 1 (b, c, d) SLC37A4 (GSD1B) Ethylmalonic Encephalopathy ETHE1 Glycogen Storage Disease Type II (Pompe Disease) GAA Exudative Vitreoretinopathy 5 TSPAN12 Glycogen Storage Disease Type III AGL GLA Glycogen Storage Disease Type V PYGM FAM20C-Related Disorders Glycogen Storage Disease Type VI PYGL Familial Dysautonomia IKBKAP Glycogen Storage Disease Type VII PFKM Familial Mediterranean Fever MEFV Glycogen Storage Disease Type IX PHKA1 Fanconi Anaemia FANCC Glycogen Storage Disease Type IX PHKA2 Fanconi Anemia, CGN, PALB2 Glycogen Storage Disease Type IX PHKB Fanconi Anemia, CGO, RAD51C Glycogen Storage Disease Type IX PHKG2 Fanconi-Bickel Syndrome SLC2A2 (GLUT2) Glycogen Storage Disease Type X PGAM2 FARS2-Related Disorders Glycogen Storage Disease Type XI LDHA FASTKD2-Related Disorders Glycogen Storage Disease Type XII ALDOA FBN1-Related Disorders Glycogen Storage Disease Type XIII ENO3 FH-Related Disorders Glycogen Storage Disease Type XIV PGM1 FHL1-Related Disorders Glycogen Storage Disease Type XV GYG1 Fibrodysplasia Ossificans Progressiva ACVR1 GMPPB-Related Disorders FLNC-Related Disorders GNE-Related Disorders (Inclusion Body Myopathy Type 2) FKRP-Related Disorders GPC3-Related Disorders FLCN -Related Disorders Gyrate Atrophy of Choroid and Retina OAT FMR1-Related Disorders (Fragile X) HADH-Related Disorders PORCN HADHA-Related Disorders (LCHAD Deficiency) FOXF1-Related Disorders HADHB-Related Disorders Fructose 1,6 Bisphosphatase Deficiency FBP1 HARS2-Related Disorders Fukuyama Congenital Muscular Dystrophy FKTN Hearing Loss and Deafness, Nonsyndromic, GJB2-Related FZD4-Related Disorders Hearing Loss, X-Linked Nonsyndromic, POU3F4 Galactosemia GALE Hemochromatosis Type 1 HFE Galactosemia GALT Hemochromatosis Type 2A HFE2 Deficiency GALK1 Hemochromatosis Type 2B HAMP Page 6 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Hemochromatosis Type 3 TFR2 Immunodeficiency Type 18 CD3E Hemochromatosis Type 4 SLC40A1 (HFE4) Immunodeficiency Type 19 CD3D Hemophagocytic Lymphohistiocytosis 3, Familial, UNC13D Immunodeficiency Type 22 LCK Hemophagocytic Lymphohistiocytosis 4, Familial, STX11 Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-linked Hemophagocytic Lymphohistiocytosis 5, Familial, STXBP2 FOXP3 Hereditary Fructose Intolerance ALDOB Inclusion Body Myopathy 3 MYH2 Hereditary Hemorrhagic Telangiectasia Type 1 ENG Inclusion Body Myopathy with Early-Onset Paget Disease with or without Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Frontotemporal 2 HNRNPA2B1 Callosum SLC12A6 (KCC3A) INS-Related Disorders Herlitz Junctional , LAMA3-Related INSR-Related Disorders Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related Intermediate Charcot-Marie-Tooth Neuropathy, KARS-Related Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related Intrahepatic Cholestasis 1, Progressive Familial (PFIC1) ATP8B1 Hermansky-Pudlak Syndrome 1 HPS1 Intrahepatic Cholestasis 2, Progressive Familial (PFIC2) ABCB11 Hermansky-Pudlak Syndrome 2 AP3B1 Intrahepatic Cholestasis 3, Progressive Familial (PFIC3) ABCB4 Hermansky-Pudlak Syndrome 3 HPS3 Intrinsic Factor Deficiency GIF Hermansky-Pudlak Syndrome 4 HPS4 Iris Hypoplasia and Glaucoma FOXC1 Hermansky-Pudlak Syndrome 5 HPS5 Isobutyryl-CoA Dehydrogenase Deficiency ACAD8 Hermansky-Pudlak Syndrome 6 HPS6 IVD Hermansky-Pudlak Syndrome 7 DTNBP1 ISPD-Related Disorders Hermansky-Pudlak Syndrome 8 BLOC1S3 TMEM216 HNF1A-Related Disorders KCNJ11-Related Disorders HNF1B-Related Disorders Ketothiolase Deficiency ACAT1 HNRNPA1-Related Disorders KIF11-Related Disorders Holocarboxylase Synthetase Deficiency HLCS Krabbe Disease GALC Caused by Cystathionine Beta-Synthase Deficiency CBS LAMA2-Related Disorders HPD Related Disorders HPD LAMB2-Related Disorders HSD17B4-Related Disorders (D-Bifunctional Deficiency) LARGE-Related Disorders Huntington Disease LARS2-Related Disorders Hyperinsulinism- Syndrome GLUD1 LCAD Deficiency ACADL GNMT LDB3-Related Disorders Hypermethioninemia with S-Adenosylhomocysteine Deficiency AHCY Leber Congenital Amaurosis, AIPL1-Related Leber Congenital Amaurosis, CABP4-Related Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome SLC25A15 (HHH) Leber Congenital Amaurosis, CEP290-Related Type II ALDH4A1 Leber Congenital Amaurosis, CRB1-Related Leber Congenital Amaurosis, CRX-Related Hyperuricemia, Pulmonary Hypertension, Renal Failure, and Alkalosis SARS2 Leber Congenital Amaurosis, GUCY2D-Related Hypophosphatemic Nephrolithiasis/Osteoporosis, 1 SLC34A1 (NPT2) Leber Congenital Amaurosis, IMPDH1-Related Hypothyroidism, Congenital, IYD Leber Congenital Amaurosis, IQCB1-Related Ichthyosis, X-Linked (STS Deficiency) FISH Leber Congenital Amaurosis, KCNJ13-Related Ichthyosis, X-Linked BIOCHEMICAL Leber Congenital Amaurosis, LCA5-Related IKBKG-Related Disorders Leber Congenital Amaurosis, LRAT-Related IKZF1-Related Disorders Leber Congenital Amaurosis, NMNAT1-Related Immunodeficiency Type 8 CORO1A Leber Congenital Amaurosis, OTX2-Related Immunodeficiency Type 9 ORAI1 Leber Congenital Amaurosis, RD3-Related Immunodeficiency Type 17 CD3G Leber Congenital Amaurosis, RDH12-Related Page 7 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Leber Congenital Amaurosis, RPE65-Related ATP7A Leber Congenital Amaurosis, RPGRIP1-Related MET-Related Disorders Leber Congenital Amaurosis, SPATA7-Related Methylcobalamin Deficiency, cblE Type MTRR Leber Congenital Amaurosis, TULP1-Related Methylcobalamin Deficiency, cblG Type MTR Leigh Syndrome, French-Canadian Type LRPPRC , MCEE-Related Lesch-Nyhan Disease HPRT Methylmalonic Acidemia, MMAA-Related Lethal Encephalopathy -Due to defective mitochondrial peroxisomal fission Methylmalonic Acidemia, MMAB-Related DNM1L Methylmalonic Acidemia, MMADHC-Related Leukemia, Acute Lymphoblastic PAX5 Methylmalonic Acidemia, MUT-Related Leukoencephalopathy (LBSL), DARS2-Related Methylmalonic Acidemia and Homocysteinemia, cblX Type HCFC1 Leukoencephalopathy (VWM), EIF2B5-Related Methylmalonic Aciduria and Homocystinuria, cblF Type LMBRD1 Leukoencephalopathy with Dystonia and Motor Neuropathy SCP2 Methylmalonic Aciduria and Homocystinuria, cblJ Type ABCD4 LIG4-Related Disorders Methylmalonic Aciduria due to Transcobalamin Defect CD320 Limb-Girdle Muscular Dystrophy Type 1E DNAJB6 MHC Class II Deficiency, CGB, RFXANK Limb-Girdle Muscular Dystrophy Type 1F TNPO3 Microcephaly, Epilepsy, and Diabetes Syndrome IER3IP1 Limb-Girdle Muscular Dystrophy Type 2A CAPN3 Microphthalmia, Isolated 5, Disorder MFRP Limb-Girdle Muscular Dystrophy Type 2C SGCG Mitchell-Riley Syndrome RFX6 Limb-Girdle Muscular Dystrophy Type 2D SGCA Mitochondrial Genome Maintenance Exonuclease 1, MGME1 Limb-Girdle Muscular Dystrophy Type 2E SGCB and Type 1 PUS1 Limb-Girdle Muscular Dystrophy Type 2S TRAPPC11 Mitochondrial Myopathy and Sideroblastic Anemia Type 2 YARS2 Liver Failure, Acute Infantile TRMU Mitochondrial Phosphate Carrier Deficiency SLC25A3 (PHC) LMNA-Related Disorders Lowe Syndrome OCRL1 Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay GFER LRP5-Related Disorders MKKS-Related Disorders Lymphoproliferative Syndrome 1 ITK MKS1-Related Disorders Lymphoproliferative Syndrome 1, X-linked, SH2D1A MMACHC (cblC) -Related Disorders (Methylmalonic Aciduria and Lymphoproliferative Syndrome 2, X-linked, XIAP Homocystinuria, cblC Type) Lysinuric Protein Intolerance SLC7A7 (LAT1) MNGIE Syndrome TYMP Malabsorptive Congenital Diarrhea 4 NEUROG3 Molybdenum Deficiency MOCS1 Malonic & Methylmalonic Aciduria, Combined ACSF3 Molybdenum Cofactor Deficiency MOCS2 Maple Syrup Urine Disease Type 1A BCKDHA MPV17-Related Disorders Maple Syrup Urine Disease Type 1B BCKDHB MPZ-Related Disorders Maple Syrup Urine Disease Type 2 DBT MRPL40-Related Disorders MARS2-Related Disorders MRPL44-Related Disorders Maturity-Onset Diabetes of the Young (MODY) Type I HNF4A MRPS18A-Related Disorders Maturity-Onset Diabetes of the Young (MODY) Type II BLK MRRF-Related Disorders Maturity-Onset Diabetes of the Young (MODY) Type VI NEUROD1 MTFMT-Related Disorders Maturity-Onset Diabetes of the Young (MODY) Type VII KLF11 mtDNA Depletion Syndrome 13, Encephalomyopathic Type FBXL4 MCAD Deficiency ACADM mtDNA Depletion Syndrome, Encephalomyopathic Form SUCLG2 MECP2-Related Disorders (Rett) mtDNA Depletion Syndrome, Myopathic RRM2B MEF2C-Related Disorders mtDNA Depletion Syndrome, Myopathic SUCLA2 Megalencephalic Leukoencephalopathy with Subcortical Cysts, MLC1- mtDNA Depletion Syndrome, Myopathic TK2 Related Mucolipidosis IV MCOLN1 Page 8 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Mucopolysaccharidosis Type I IDUA Niemann-Pick Disease Type A SMPD1 Type II IDS Niemann-Pick Disease Type C NPC1 Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome A) SGSH Niemann-Pick Disease Type C NPC2 Mucopolysaccharidosis Type IVA GALNS Nijmegen Breakage Syndrome-like Disorder RAD50 Mucopolysaccharidosis Type VI ARSB Non-Polyposis Colorectal Cancer PMS1 Noonan Syndrome CBL Multiple Acyl-CoA Dehydrogenase Deficiency ETFA Noonan Syndrome KRAS Multiple Acyl-CoA Dehydrogenase Deficiency ETFB Noonan Syndrome NRAS Multiple Acyl-CoA Dehydrogenase Deficiency ETFDH Noonan Syndrome PTPN11 Multiple Intestinal Atresia TTC7A Noonan Syndrome RAF1 Muscle-Eye-Brain Disease POMGNT1 Noonan Syndrome RIT1 Muscular Dystrophy-Dystroglycanopathy 9 (Limb-Girdle) Type C DAG1 Noonan Syndrome SOS1 MYBPC3 -Related Disorders Noonan-like Syndrome SHOC2 MYH7 -Related Disorders NPHP1-Related Disorders MYO7A-Related Disorders (Usher Syndrome 1B) NPHP3-Related Disorders Myoclonic Dystonia-11 SGCE NPHP4-Related Disorders Myopathy due to Myoadenylate Deaminase Deficiency AMPD1 Nuclear Encoded ATPase Deficiency TMEM70 Myopathy with Deficiency of ISCU Type 1 TYR MYOT Related Disorders MYOT Oculocutaneous Albinism Type 2 OCA2 Type 1 Oculocutaneous Albinism Type 3 TYRP1 Myotubular Myopathy, X-linked MTM1 Oculocutaneous Albinism Type 4 SLC45A2 (OCA4) N-Acetylglutamate Synthase Deficiency NAGS Oculocutaneous Albinism, X-Linked GPR143 Nail-Patella Syndrome LMX1B Oculopharyngeal Muscular Dystrophy PABPN1 NARS2-Related Disorders OPA3-Related Disorders Native American Myopathy STAC3 Optic Atrophy Type 1 OPA1 NBN-Related Disorders (Nijmegen Breakage Syndrome) OPTN-Related Disorders NDP-Related Disorders Osteogenesis Imperfecta CRTAP Amish Type 5 TNNT1 Osteogenesis Imperfecta LEPRE1 Nemaline Myopathy, Autosomal Dominant 6 KBTBD13 Osteogenesis Imperfecta, FKBP10-Related Nemaline Myopathy, Autosomal Recessive 2 NEB Osteogenesis Imperfecta Type V IFITM5 Osteogenesis Imperfecta, PPIB-Related Nemaline Myopathy, Autosomal Recessive 7 CFL2 Osteogenesis Imperfecta, SP7-Related Nemaline Myopathy, Autosomal Recessive 8 KLHL40 Osteogenesis Imperfecta Type VI SERPINF1 Neonatal Diabetes Mellitus with Congenital Hypothyroidism GLIS3 Osteogenesis Imperfecta, Type XV WNT1 Nephronophthisis 2, Infantile INVS Osteopathia Striata with Cranial Sclerosis FAM123B Nephrotic Syndrome Type 1 NPHS1 Osteopetrosis with Renal Tubular Acidosis CA2 Nephrotic Syndrome Type 2 NPHS2 Osteogenesis Imperfecta Type VI SERPINF1 ALK Osteogenesis Imperfecta, Type XV WNT1 Neuronal Ceroid Lipofuscinosis, CLN3-Related Osteopathia Striata with Cranial Sclerosis FAM123B Neuronal Ceroid Lipofuscinosis, CLN5-Related Osteopetrosis with Renal Tubular Acidosis CA2 Neuronal Ceroid Lipofuscinosis, CLN6-Related Osteopetrosis, CLCN7-Related Neuronal Ceroid Lipofuscinosis, CLN8-Related Osteopetrosis, OSTM1-Related Neuronal Ceroid Lipofuscinosis, PPT1-Related Osteopetrosis, TCIRG1-Related Neuronal Ceroid Lipofuscinosis, TPP1-Related Osteopetrosis, TNFSF11-Related NF2-Related Disorders OTC Deficiency OTC Page 9 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Paget Disease, Juvenile TNFRSF11B POMT1-Related Disorders Paraganglioma/Pheochromocytoma TMEM127 POMT2-Related Disorders PAX4 -Related Disorders Pontocerebellar Hypoplasia Type 6 RARS2 PAX6-Related Disorders Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract PCDH19-Related X-Linked Female-Limited Epilepsy w/MR Disorder ABHD12 PDH Complex Deficiency DLAT Prader-Willi-like Syndrome; Intellectual Disability; Autism MAGEL PDH Complex Deficiency PDHA1 PRF1-Related Disorders PDH Complex Deficiency PDHB Primary Hyperoxaluria Type 1 AGXT PDH Complex Deficiency PDHX Primary Hyperoxaluria Type 2 GRHPR PDH Complex Deficiency PDP1 Primary Open Angle Glaucoma 1A MYOC PDX1-Related Disorders PDX1 PRKAR1A-Related Disorders Pelizaeus-Merzbacher-Like Disease GJC2 PRKDC-Related Disorders Pendred Syndrome SLC26A4 (PENDRIN) PROP1-Related Combined Pituitary Hormone Deficiency Permanent Neonatal Diabetes Mellitus with Cerebellar Agenesis PTF1A , PCCA-Related Peroxisomal Acyl-CoA Oxidase Deficiency ACOX1 Propionic Acidemia, PCCB-Related Peroxisome Biogenesis Disorder 1 PEX1 (Zellweger Spectrum Disorders) PTCH1-Related Disorders Peroxisome Biogenesis Disorder 2 PEX5 PTEN-Related Disorders Peroxisome Biogenesis Disorder 3 PEX12 Purine Nucleoside Deficiency Peroxisome Biogenesis Disorder 4 PEX6 Pycnodysostosis CTSK Peroxisome Biogenesis Disorder 5 PEX2 Pyridoxine-Dependent Seizures ALDH7A1 Peroxisome Biogenesis Disorder 6 PEX10 Pyruvate Carboxylase Deficiency PC Peroxisome Biogenesis Disorder 7 PEX26 RAG2-Related Disorders Peroxisome Biogenesis Disorder 8 PEX16 RECQL4 -Related Disorders (Rothmund-Thomson Syndrome) Refsum Disease PHYH Peroxisome Biogenesis Disorder 10A (Zellweger) PEX3 Reticular Dysgenesis AK2 Peroxisome Biogenesis Disorder 11 PEX13 Retinitis Pigmentosa, ABCA4-Related Peroxisome Biogenesis Disorder 12A (Zellweger) PEX19 Retinitis Pigmentosa, ABHD12-Related Peroxisome Biogenesis Disorder 13A (Zellweger) PEX14 Retinitis Pigmentosa, AIPL1-Related Peroxisome Biogenesis Disorder 14B PEX11B Retinitis Pigmentosa, BEST1-Related PEX7-Related Disorders (Rhizomelic Chondrodysplasia Punctata Type I) Retinitis Pigmentosa, C2orf71-Related PGM3-Related Disorders Retinitis Pigmentosa, C8orf37-Related Hydroxylase Deficiency () PAH Retinitis Pigmentosa, CA4-Related Pheochromocytoma MAX Retinitis Pigmentosa, CDHR1-Related Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic, PCK1 Retinitis Pigmentosa, CEP290-Related Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial, PCK2 Retinitis Pigmentosa, CERKL-Related Retinitis Pigmentosa, CNGA1-Related PHOX2B-Related Disorders Retinitis Pigmentosa, CNGB1-Related PITX2-Related Disorders Retinitis Pigmentosa, CRB1-Related PITX3-Related Disorders Retinitis Pigmentosa, CRX-Related PLEC-Related Disorders Retinitis Pigmentosa, DHDDS-Related PLOD3-Related Disorders Retinitis Pigmentosa, EYS-Related PLP1-Related Disorders Retinitis Pigmentosa, FAM161A-Related POC1B-Related Disorders Retinitis Pigmentosa, FLVCR1-Related POLG-Related Disorders Retinitis Pigmentosa, FSCN2-Related POLG2-Related Disorders Retinitis Pigmentosa, GUCA1B-Related Page 10 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

Retinitis Pigmentosa, GUCY2D-Related , Congenital Variant FOXG1 Retinitis Pigmentosa, IDH3B-Related Rhizomelic Chondrodysplasia Punctata Type 2 GNPAT Retinitis Pigmentosa, IMPDH1-Related Rhizomelic Chondrodysplasia Punctata Type 3 AGPS Retinitis Pigmentosa, IMPG2-Related RMRP-Related Disorders (Cartilage Hair Hypoplasia) Retinitis Pigmentosa, KLHL7-Related RYR1-Related Disorders Retinitis Pigmentosa, LCA5-Related RYR2-Related Disorders Retinitis Pigmentosa, LRAT-Related Rubinstein-Taybi Syndrome CREBBP Retinitis Pigmentosa, MAK-Related Salla Disease SLC17A5 (NSD) Retinitis Pigmentosa, MERTK-Related Sandhoff Disease HEXB Retinitis Pigmentosa, MFRP-Related SCAD Deficiency ACADS Retinitis Pigmentosa, NR2E3-Related Schmid Metaphyseal Chondrodysplasia (SMCD) COL10A1 Retinitis Pigmentosa, NRL-Related Sclerosing Dysplasias, SOST-Related Retinitis Pigmentosa, PDE6A-Related SCN4A-Related Disorders Retinitis Pigmentosa, PDE6B-Related Selective T-cell Defect ZAP70 Retinitis Pigmentosa, PDE6G-Related SEPN1-Related Disorders Retinitis Pigmentosa, PRCD-Related SERPINA1-Related Disorders SERPINA1 Retinitis Pigmentosa, PRKCG-Related Severe Combined Immunodeficiency, Athabascan type DCLRE1C Retinitis Pigmentosa, PROM1-Related Severe Combined Immunodeficiency, X-Linked IL2RG Retinitis Pigmentosa, PRPF3-Related Severe Combined Immunodeficiency IL7R Retinitis Pigmentosa, PRPF31-Related Severe Combined Immunodeficiency JAK3 Retinitis Pigmentosa, PRPF6-Related Severe Combined Immunodeficiency NHEJ1 Retinitis Pigmentosa, PRPF8-Related Severe Combined Immunodeficiency PTPRC Retinitis Pigmentosa, PRPH2-Related Severe Combined Immunodeficiency RAG1 Retinitis Pigmentosa, RBP3-Related SGCD-Related Disorders Retinitis Pigmentosa, RD3-Related Shwachman-Bodian-Diamond Syndrome SBDS Retinitis Pigmentosa, RDH12-Related Sjogren-Larsson Syndrome ALDH3A2 Retinitis Pigmentosa, RGR-Related SLC9A3R1 (NPHLOP2)-Related Disorders Retinitis Pigmentosa, RHO-Related SLC16A1 (HHF7)-Related Disorders Retinitis Pigmentosa, Autosomal Recessive, Bothnia Type RLBP1 SLC25A4/ANT1-Related Disorders Retinitis Pigmentosa, ROM1-Related SMAD4 -Related Disorders Retinitis Pigmentosa, RP1-Related Smith-Lemli-Opitz Syndrome DHCR7 Retinitis Pigmentosa, RP2-Related Smith-Magenis Syndrome RAI1 Retinitis Pigmentosa, RP9-Related Spastic Paraplegia 7, Autosomal Recessive SPG7 Retinitis Pigmentosa, RPE65-Related Spinocerebellar Ataxia 1 SCA1 Retinitis Pigmentosa, RPGR-Related Spinocerebellar Ataxia 10 SCA10 Retinitis Pigmentosa, RPGRIP1-Related Spinocerebellar Ataxia 14 PRKCG Retinitis Pigmentosa, SAG-Related SRD5A3-Related Disorders Retinitis Pigmentosa, SEMA4A-Related STAT5B-Related Disorders Retinitis Pigmentosa, SNRNP200-Related STIM1-Related Disorders Retinitis Pigmentosa, SPATA7-Related STK11-Related Disorders Retinitis Pigmentosa, TOPORS-Related Succinic Semialdehyde Dehydrogenase Deficiency ALDH5A1 Retinitis Pigmentosa, TTC8-Related SUCLG1-Related Disorders Retinitis Pigmentosa, TULP1-Related SYNE1-Related Disorders Retinitis Pigmentosa, ZNF513-Related Tay-Sachs Disease (Hexosaminidase A Deficiency) HEXA Retinoschisis RS1 TCAP-Related Disorders Page 11 of 13 LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM NAME: DATE OF BIRTH: / / LAST NAME FIRST NAME MI MM DD YY

DISORDER SPECIFIC TESTING Notice: Prior to ordering any of the disorders listed below, you must call the lab and discuss the clinical history and sample requirements with a genetic counselor.

T-cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy FOXN1 TFAM-Related Disorders TFB1M-Related Disorders TMEM43-Related Disorders TMEM67-Related Disorders TMLHE Deficiency TNFRSF11A -Related Disorders TOMM20-Related Disorders TPM2-Related Disorders TPM3-Related Disorders TTN-Related Disorders Transcobalamin II Deficiency TCN2 TRIM32-Related Disorders TSHR-Related Disorders TSHR TUSC3-Related Disorders TYROBP-Related Disorders Hydroxylase Deficiency TH Type I FAH Tyrosinemia Type II TAT Usher Syndrome 1C USH1C Usher Syndrome 1F PCDH15 Usher Syndrome 1G USH1G USH2A-Related Disorders (Usher Syndrome 2A; Retinitis Pigmentosa) Usher Syndrome 2C GPR98 Usher Syndrome 2D DFNB31 VCP-Related Disorders VLCAD Deficiency ACADVL Von Hippel-Lindau Syndrome VHL VSX1-Related Disorders Welander Distal Myopathy TIA1 WFS1-Related Disorders Wolcott-Rallison Syndrome EIF2AK3 Wolfram Syndrome 2 CISD2 Wolman Disease LIPA Wilson Disease ATP7B WT1-Related Disorders

LAST UPDATED: 2/5/2015 BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 PRENATAL COMPREHENSIVE REQUISITION FORM BILLING INFORMATION IMPORTANT NOTICE: ONE OF THE THREE FOLLOWING BILLING OPTIONS MUST BE INDICATED BELOW. PLEASE FORWARD ALL BILLING QUESTIONS TO: [email protected] PATIENT INFORMATION PATIENT NAME (LAST,FIRST, MI): PATIENT DATE OF BIRTH (MM/DD/YY):

ADDRESS: CITY, STATE, ZIP:

PHONE: EMAIL:

PAYMENT OPTION 1 - INSTITUTION INSTITUTION NAME: INSTITUTION CODE:

CONTACT NAME: EMAIL (REQUIRED):

BILLING ADDRESS: CITY, STATE, ZIP:

PHONE: FAX:

PAYMENT OPTION 2 - SELF-PAY (PAYMENT MUST ACCOMPANY SAMPLE) CREDIT CARD (PLEASE SELECT ONE): AMEX DISCOVER MC VISA

VALID CARD #: EXPIRATION DATE (MM/YY): CVC CODE:

BILLING ADDRESS: CITY, STATE, ZIP:

CARDHOLDER PRINTED NAME: CARDHOLDER SIGNATURE:

CHECK/MONEY ORDER: CHECK/MONEY ORDER #: AMOUNT ENCLOSED:

PAYMENT OPTION 3 - INSURANCE PROVIDE A LEGIBLE PHOTOCOPY OF THE FRONT & BACK OF THE INSURANCE CARD OR HMO/MEDICAID HMO AUTHORIZATION/REFERRAL. Please refer to the Financial Policy at www.bmgl.com for complete insurance filing information and managed care contract list. Insurance is filed to our contracted carriers as a client service courtesy. Patients are responsible for non-covered services, deductibles, co-insurance, contract exclusions, non-authorized services, and remaining balances after insurance reimbursement. HMO policies must have required approved authorizations. Baylor Miraca Genetics Laboratories cannot bill out-of-state welfare programs. We accept authorized Texas Medicaid HMO covered charges for . Please contact our office prior to submitting a Texas Medicaid sample. Contact [email protected] with questions.

ORDERING PROVIDER: ICD9 Diagnosis Code(s) - must be provided or insurance cannot be filed: PPO, POS, Commercial Insurance - Provide complete member information with legible front & back photocopy of insurance card.

HMO - Provide approved authorization #: and attach legible front & back photocopy of insurance card. Texas Medicaid HMO - Provide approved authorization #: and contact Billing at 713-798-6555. INSURED MEMBER'S INFORMATION

MEMBER NAME (Last, First, MI): MEMBER DATE OF BIRTH (MM/DD/YY): GENDER: FEMALE MALE

MEMBER POLICY #: MEMBER SS #: MEMBER GROUP #:

INSURANCE CO. NAME: PHONE:

INSURANCE CO. ADDRESS: CITY, STATE, ZIP:

I AUTHORIZE BAYLOR MIRACA GENETICS LABORATORIES TO FURNISH ANY MEDICAL INFORMATION REQUESTED ON MYSELF, OR MY COVERED DEPENDENTS. IN CONSIDERATION OF SERVICES RENDERED, I TRANSFER AND ASSIGN ANY BENEFITS OF INSURANCE TO BAYLOR MIRACA GENETICS LABORATORIES. I UNDERSTAND I AM RESPONSIBLE FOR ANY CO- PAY, DEDUCTIBLES, OR NON-AUTHORIZED SERVICES AND REMAINING BALANCES AFTER INSURANCE REIMBURSEMENT. I UNDERSTAND I AM FULLY RESPONSIBLE FOR PAYMENT OF MY ACCOUNT IF BAYLOR MIRACA GENETICS LABORATORIES IS NOT A PARTICIPANT WITH MY HEALTH PLAN, AND MY HEALTH PLAN DOES NOT FULLY REIMBURSE MY MEDICAL SERVICES DUE TO LACK OF AUTHORIZATION OR MEDICAL NECESSITY.

PRINTED NAME: SIGNATURE: DATE (MM/YY):

Page 13 of 13 LAST UPDATED: 2/5/2015