General Test Requisition Form Please complete every field and tick box clearly. BioChemical and Molecular PATIENT INFORMATION

Patient’s First Name Patient’s Last Name MM/ DD/ YY Patient’s Street Address Patient’s Date of Birth Patient’s Email

City / Town State Zip Code Country Patient’s Preferred Phone Ethnicity (check all that apply): African-AmericanAsian (China, Japan, Korea) Caucasian/N.European/S.European Biological Sex: Finnish French Canadian Hispanic Jewish- Ashkenazi Jewish- Sephardic Male Female Mediterranean Middle Eastern (Saudi Arabia, Qatar, Iraq, Turkey) Native American E. Indian Unknown Ambiguous Southeast Asian (Vietnam, Cambodia, Thailand) South Asian (India, Pakistan) Other (specify) PROVIDER INFORMATION REQUESTING PROVIDER

Provider’s First Name Provider’s Last Name

Clinic / Hospital / Institution Name Provider’s Phone Provider’s NPI

Reporting Street Address Provider’s Email

City / Town State Zip Code Country Provider’s Fax SEND ADDITIONAL REPORTS TO: GENETIC COUNSELORADDITIONAL PROVIDER NA GENETIC COUNSELOR (IF APPLICABLE)

Genetic Counselor’s Name Genetic Counselor’s Email

Genetic Counselor’s Phone Genetic Counselor’s Fax ADDITIONAL PROVIDER CONTACT

Additional Provider’s Name Additional Provider’s Email

Additional Provider’s Phone Additional Provider’s Fax SPECIMEN INFORMATION

AM SAMPLE TYPE: Whole Blood (Biochemical and Molecular) Other MM/ DD/ YY : PM Date of Sample Collection Time of Sample Collection Dried Blood Spots (Biochemical and Molecular) Saliva (Molecular only)

1 BILLING INFORMATION

INSTITUTIONAL BILLING

Institution / Organization

Contact Name Institution Phone

Institutional Billing Street Address Institution Email

City / Town State Zip Code Institution Fax SELF PAY Please make checks payable to: PerkinElmer Genetics, Inc. Cashier Check $ Amount Enclosed Credit Card (Please fill out all information): CVV Credit Card Number MM/ YY Cardholder Billing Street Address Card Exp. Date Cardholder Phone

City / Town State Zip Code Cardholder Printed Name as Appears on Card

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2 PANEL TESTS

METABOLIC ANALYTES AND PROFILES - BIOCHEMICAL TEST CODE DESCRIPTION SPECIMEN AC ACYLCARNITINE PROFILE DBS, WB AA AMINO ACID PROFILE DBS, WB OA ORGANIC ACID PROFILE DBS, WB GAL GALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB LSD ENZYME PANEL: FABRY DISEASE, GAUCHER DISEASE, KRABBE DISEASE, MAROTEAUX-LAMY SYNDROME (MPS VI) LSDALL DBS, WB MORQUIO A SYNDROME (MPS IVA), HURLER SYNDROME (MPS I), NIEMANN PICK DISEASE TYPE A/B, POMPE DISEASE HGB SICKLE CELL & OTHER HEMOGLOBINOPATHIES: ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINS DBS, WB STEPONE® BIOCHEMICAL PROFILE - INCLUDES: 17OHP, AA, AC, BIO, IRT, GAL, HGB, TSH, GLA, ABG, GALC, IDUA, ASM, GAA, XALD, StepOne DBS, WB SCID, G6DNA METABOLIC / NBS DISORDERS - MOLECULAR LSDS LYSOSOMAL STORAGE DISORDER (LSD) GENE SEQUENCING PANEL (12 GENES) DBS, WB, SV NBSS NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES) DBS, WB, SV NBSLSDS NBS AND LSD GENE SEQUENCING PANEL (94 GENES) DBS, WB, SV SCIDS SEVERE COMBINED IMMUNODEFICIENCY (SCID) GENE SEQUENCING PANEL (26 GENES) DBS, WB, SV MCCS 3-METHYLCRONTONYL-COA-CARBOXYLASE DEFICIENCY: MCCC1, MCCC2 GENE SEQUENCING DBS, WB, SV BIOPRECS BIOPTERIN DEFECT IN COFACTOR RECYCLING: PCBD1, QDPR GENE SEQUENCING DBS, WB, SV BIOPSYNS BIOPTERIN DEFECT IN COFACTOR SYNTHESIS: GCH1, PTS GENE SEQUENCING DBS, WB, SV MMAS COBALAMIN A / B DEFICIENCY: MMAA, MMAB GENE SEQUENCING DBS, WB, SV GA2S GLUTARIC ACIDEMIA TYPE II: ETFA, ETFB, ETFDH GENE SEQUENCING DBS, WB, SV LCHADS LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY: HADHA, HADHB GENE SEQUENCING DBS, WB, SV MSUDS MAPLE SYRUP URINE DISEASE: BCKDHA, BCKDHB, DBT GENE SEQUENCING DBS, WB, SV PCCS PROPIONIC ACIDEMIA: PCCA, PCCB GENE SEQUENCING DBS, WB, SV NEWBORN AND PEDIATRIC GENE PANELS NBSS NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (82 GENES) DBS, WB, SV NBSLSDS NBS AND LSD GENE SEQUENCING PANEL (94 GENES) DBS, WB, SV NBSSEXP EXPANDED NEWBORN SCREENING (NBS) GENE SEQUENCING PANEL (275 GENES)* DBS, WB, SV NEOSEQ NEOSEQ NEWBORN AND PEDIATRIC GENE PANEL (1744 GENES)* DBS, WB, SV *Individual gene tests can be ordered from the panel. Please inquiry by calling the lab. INDIVIDUAL BIOCHEMICAL AND GENE TESTS

METABOLIC / NBS DISORDERS - BIOCHEMICAL AC ACYLCARNITINE PROFILE DBS, WB AA AMINO ACID PROFILE DBS, WB OA ORGANIC ACID PROFILE DBS, WB BIO BIOTINIDASE DEFICIENCY (COMPLETE/PARTIAL) - BIOTINIDASE ENZYME ANALYSIS DBS, WB 17OHP CONGENITAL ADRENAL HYPERPLASIA - 17Α HYDROXYPROGESTERONE (17 OHP) DBS, WB TSH CONGENITAL HYPOTHYROIDISM - THYROID-STIMULATING HORMONE (TSH) DBS, WB T4 CONGENITAL HYPOTHYROIDISM - THYROXINE (T4) DBS, WB IRT CYSTIC FIBROSIS (NOT VALID AFTER 90 DAYS OF AGE) - IMMUNOREACTIVE TRYPSIN (IRT) DBS, WB DMDCK DUCHENNE MUSCULAR DYSTROPHY - CREATINE KINASE ENZYME ANALYSIS DBS, WB GLA FABRY DISEASE - ALPHA-GALACTOSIDASE A ENZYME ANALYSIS DBS, WB GAL GALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB GALMON GALACTOSEMIA MONITORING - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB ABG GAUCHER DISEASE - GLUCOCEREBROSIDASE (GLUCOSYLCERAMIDASE) ENZYME ANALYSIS DBS, WB G6PD GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY DBS, WB GALC KRABBE DISEASE - GALACTOCEREBROSIDASE ENZYME ANALYSIS DBS, WB IDUA MPS I (HURLER SYNDROME) - ALPHA-L-IDURONIDASE ENZYME ANALYSIS DBS, WB IDS MPS II (HUNTER DISEASE) - IDURONATE 2-SULFATASE ENZYME ANALYSIS DBS, WB GALNS MPS IVA (MORQUIO A SYNDROME) - GALACTOSAMINE-6-SULFATASE ENZYME ANALYSIS DBS, WB MPS VI (MAROTEAUX-LAMY SYNDROME) - ARYLSULFATASE B ENZYME ANALYSIS ARSB MPS I (HURLER SYNDROME) - ALPHA-L-IDURONIDASE ENZYME ANALYSIS DBS, WB ASM NIEMANN PICK DISEASE TYPE A/B - ACID SPHINGOMYELINASE ENZYME ANALYSIS DBS, WB PKMON PKU MONITORING - PHENYLALANINE DBS, WB GAA POMPE DISEASE - ACID ALPHA-GLUCOSIDASE ENZYME ANALYSIS DBS, WB HGB SICKLE CELL & OTHER HEMOGLOBINOPATHIES - ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINS DBS, WB SUACMO SUCCINYLACETONE (SUAC) DBS, WB TYRMON TYROSINEMIA MONITORING - SUCCINYLACETONE AND TYROSINE DBS, WB XALD X-LINKED ADRENOLEUKODYSTROPHY - C26:0 LYSOPHOSPHATIDYLCHOLINE DBS, WB POST MORTEM INCLUDES: 17-HYDROXY PROGESTERONE, ACYL CARNITINES, GALACTOSE, THYROID STIMULATING DBS, Vitreous POSTM Fluid, Bile, HORMONE Liver Tissue Blot

3 METABOLIC / NBS DISORDERS - MOLECULAR

TEST CODE DESCRIPTION SPECIMEN XALDS ABCD1 XALD GENE SEQUENCING DBS, WB, SV ACAD8S ACAD8 ISOBUTYRYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCING DBS, WB, SV MCADNA ACADM- MCADD MUTATION PANEL DBS, WB, SV MCADS ACADM-MCADD GENE SEQUENCING DBS, WB, SV SCADS ACADS SCADD GENE SEQUENCING DBS, WB, SV ACADSBS ACADSB 2-METHYLBUTYRYL GLYCINURIA GENE SEQUENCING DBS, WB, SV ACADVLS ACADVL VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY GENE SEQUENCING DBS, WB, SV ACAT1S ACAT1 BETA-KETOTHIOLASE DEFICIENCY GENE SEQUENCING DBS, WB, SV ADKS ADK HYPERMETHIONINEMIA GENE SEQUENCING DBS, WB, SV ARG1S ARG1 ARGININEMIA GENE SEQUENCING DBS, WB, SV ARSBS ARSB MPS VI (MAROTEAUX-LAMY SYNDROME) GENE SEQUENCING DBS, WB, SV ASLS ASL ARGININOSUCCINIC ACIDURIA GENE SEQUENCING DBS, WB, SV ASS1S ASS1 CITRULLINEMIA TYPE I GENE SEQUENCING DBS, WB, SV AUHS AUH 2-METHYLGLUTACONIC ACIDURIA GENE SEQUENCING DBS, WB, SV MSUDNA BCKDHA-MAPLE SYRUP URINE DISEASE MUTATION TESTING DBS, WB, SV MSUDS BCKDHA, BCKDHB, DBT MSUD GENE SEQUENCING DBS, WB, SV BIODNA BTD-BIOTINIDASE DEFICIENCY DBS, WB, SV BIOS BTD BIOTINIDASE GENE SEQUENCING DBS, WB, SV CBSS CBS HOMOCYSTINURIA GENE SEQUENCING DBS, WB, SV IRTEXT CFTR CYSTIC FIBROSIS MUTATION PANEL DBS, WB, SV CFTRS CFTR CYSTIC FIBROSIS GENE SEQUENCING DBS, WB, SV CPT1AS CPT1A CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY GENE SEQUENCING DBS, WB, SV CPT2S CPT2 CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY GENE SEQUENCING DBS, WB, SV 17OHPS CYP21A2 CAH GENE SEQUENCING AND DEL/DUP (MLPA) DBS, WB, SV DMD DMD DUCHENNE MUSCULAR DYSTROPHY DELETION/DUPLICATION DBS, WB, SV DMDS DMD DUCHENNE MUSCULAR DYSTROPHY GENE SEQUENCING DBS, WB, SV GA2S ETFA, ETFB, ETFDH GLUTARIC ACIDEMIA TYPE II GENE SEQUENCING DBS, WB, SV FAHS FAH TYROSINEMIA TYPE I GENE SEQUENCING DBS, WB, SV G6DNA G6PD GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY MUTATION PANEL DBS, WB, SV G6PDS G6PD GENE SEQUENCING DBS, WB, SV GAAS GAA POMPE DISEASE GENE SEQUENCING DBS, WB, SV GALES GALE GALACTOEPIMERASE DEFICIENCY GENE SEQUENCING DBS, WB, SV GALKS GALK GALACTOKINASE DEFICIENCY GENE SEQUENCING DBS, WB, SV GALNSS GALNS MPS IVA (MORQUIO SYNDROME A) GENE SEQUENCING DBS, WB, SV GALDNA GALACTOSEMIA MUTATION PANEL DBS, WB, SV GALTS GALT GALACTOSEMIA GENE SEQUENCING DBS, WB, SV GA1DNA GCDH-GLUTARIC ACIDEMIA TYPE I-MUTATION PANEL DBS, WB, SV GA1S GCDH GA1 GENE SEQUENCING DBS, WB, SV GALCS GALC KRABBE DISEASE GENE SEQUENCING DBS, WB, SV GBAS GBA GAUCHER DISEASE GENE SEQUENCING DBS, WB, SV GLAS GLA FABRY DISEASE GENE SEQUENCING DBS, WB, SV GLB1S GLB1 MPS IVB (GM1 GANGLIOSIDOSIS) GENE SEQUENCING DBS, WB, SV GUSBS GUSB MPS VII GENE SEQUENCING DBS, WB, SV HADHS HADH M/SCHADD GENE SEQUENCING DBS, WB, SV LCHADD HADHA- LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY MUTATION ANALYSIS DBS, WB, SV LCHADS HADHA, HADHB LCHADD GENE SEQUENCING DBS, WB, SV HGBDNA SICKLE CELL & OTHER HEMOGLOBINOPATHIES MUTATION PANEL DBS, WB, SV HLCSS HLCS MULTIPLE CARBOXYLASE DEFICIENCY GENE SEQUENCING DBS, WB, SV HMGCLS HMGCL HMG-COA LYASE DEFICIENCY GENE SEQUENCING DBS, WB, SV HPDS HPD TYROSINEMIA TYPE III GENE SEQUENCING DBS, WB, SV IDUAS IDUA MPS I (HURLER SYNDROME) GENE SEQUENCING DBS, WB, SV IDSS IDS MPS II (HUNTER SYNDROME) GENE SEQUENCING DBS, WB, SV IVADNA ISOVALERIC ACIDEMIA MUTATION TESTING DBS, WB, SV IVAS IVD IVA GENE SEQUENCING DBS, WB, SV MCCDNA 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY MUTATION TEST DBS, WB, SV MCCS MCCC1, MCCC2 MCC GENE SEQUENCING DBS, WB, SV MMAS MMAA, MMAB COBALAMIN A / B DEFICIENCY GENE SEQUENCING DBS, WB, SV MMACHCS MMACHC COBALAMIN C DEFICIENCY GENE SEQUENCING DBS, WB, SV MMADHCS MMADHC COBALAMIN D DEFICIENCY GENE SEQUENCING DBS, WB, SV MMADNA MUT - METHYLMALONIC ACIDEMIA MUTATION PANEL DBS, WB, SV MUTS MUT METHYLMALONIC ACIDEMIA (MUTASE DEFICIENCY) GENE SEQUENCING DBS, WB, SV NADK2S NADK2 2,4 DIENOYL-COA REDUCTASE DEFICIENCY GENE SEQUENCING DBS, WB, SV PAHS PAH PKU GENE SEQUENCING DBS, WB, SV BIOPRECS PCBD1, QDPR BIOPTERIN DEFECT IN COFACTOR RECYCLING GENE SEQUENCING DBS, WB, SV BIOPSYNS GCH1, PTS BIOPTERIN DEFECT IN COFACTOR SYNTHESIS GENE SEQUENCING DBS, WB, SV PCCDNA PCCB-PROPIONIC ACIDEMIA MUTATION PANEL DBS, WB, SV PCCS PCCA, PCCB PROPIONIC ACIDEMIA GENE SEQUENCING DBS, WB, SV

4 TEST CODE DESCRIPTION SPECIMEN SLC22A5S SLC22A5 CARNITINE UPTAKE DEFECT GENE SEQUENCING DBS, WB, SV SLC25A13S SLC25A13 CITRULLINEMIA TYPE II GENE SEQUENCING DBS, WB, SV SLC25A20S SLC25A20 CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY GENE SEQUENCING DBS, WB, SV SMPD1S SMPD1 NIEMANN-PICK DISEASE TYPE A/B GENE SEQUENCING DBS, WB, SV SMA SPINAL MUSCULAR ATROPHY SMN1 DIAGNOSTIC TESTING (MLPA) DBS, WB, SV SMACA SPINAL MUSCULAR ATROPHY SMN1 CARRIER TESTING (MLPA) DBS, WB, SV SMACN SPINAL MUSCULAR ATROPHY SMN2 COPY NUMBER (MLPA) DBS, WB, SV SUMF1S SUMF1 MULTIPLE SULFATASE DEFICIENCY GENE SEQUENCING DBS, WB, SV TATS TAT TYROSINEMIA TYPE II GENE SEQUENCING DBS, WB, SV

SEVERE COMBINED IMMUNODEFICIENCY SCID SEVERE COMBINED IMMUNODEFICIENCY - TREC ASSAY DBS, WB SCIDS SEVERE COMBINED IMMUNODEFICIENCY GENE SEQUENCING PANEL (26 GENES) DBS, WB, SV ADAS ADA SCID GENE SEQUENCING DBS, WB, SV AK2S AK2 SCID GENE SEQUENCING DBS, WB, SV ATMS ATM SCID GENE SEQUENCING DBS, WB, SV CD3DS CD3D SCID GENE SEQUENCING DBS, WB, SV CD3ES CD3E SCID GENE SEQUENCING DBS, WB, SV CD3ZS CD3Z SCID GENE SEQUENCING DBS, WB, SV CORO1AS CORO1A SCID GENE SEQUENCING DBS, WB, SV DCLRE1CS DCLRE1C (ARTEMIS) SCID GENE SEQUENCING DBS, WB, SV DOCK8S DOCK8 SCID GENE SEQUENCING DBS, WB, SV FOXN1S FOXN1 SCID GENE SEQUENCING DBS, WB, SV IL2RGS IL2RG SCID GENE SEQUENCING DBS, WB, SV IL7RS IL7R SCID GENE SEQUENCING DBS, WB, SV JAK3S JAK3 SCID GENE SEQUENCING DBS, WB, SV LIG4S LIG4 SCID GENE SEQUENCING DBS, WB, SV NHEJ1S NHEJ1 SCID GENE SEQUENCING DBS, WB, SV ORAI1S ORAI1 SCID GENE SEQUENCING DBS, WB, SV PNPS PNP SCID GENE SEQUENCING DBS, WB, SV PRKDCS PRKDC SCID GENE SEQUENCING DBS, WB, SV PTPRCS PTPRC SCID GENE SEQUENCING DBS, WB, SV RAC2S RAC2 SCID GENE SEQUENCING DBS, WB, SV RAG1S RAG1 SCID GENE SEQUENCING DBS, WB, SV RAG2S RAG2 SCID GENE SEQUENCING DBS, WB, SV RMRPS RMRP SCID GENE SEQUENCING DBS, WB, SV STIM1S STIM1 SCID GENE SEQUENCING DBS, WB, SV TBX1S TBX1 SCID GENE SEQUENCING DBS, WB, SV ZAP70S ZAP70 SCID GENE SEQUENCING DBS, WB, SV

LYSOSOMAL STORAGE DISORDERS

LSD ENZYME PANEL: FABRY DISEASE, GAUCHER DISEASE, KRABBE DISEASE, MPS I (HURLER SYNDROME), MPS II LSDALL (HUNTER SYNDROME), MPS IVA (MORQUIO A SYNDROME), MPS VI (MAROTEAUX-LAMY SYNDROME), NIEMANN-PICK DBS, WB DISEASE TYPE A/B, POMPE DISEASE LSDS LYSOSOMAL STORAGE DISORDER (LSD) GENE SEQUENCING PANEL (12 GENES) DBS, WB, SV ARSB MPS VI (MAROTEAUX-LAMY SYNDROME) - ARYLSULFATASE B ENZYME ANALYSIS DBS, WB ARSBS ARSB MUCOPOLYSACCHARIDOSIS VI (MAROTEAUX-LAMY SYNDROME) GENE SEQUENCING DBS, WB, SV GLA FABRY DISEASE - ALPHA-GALACTOSIDASE A ENZYME ANALYSIS DBS, WB GLAS GLA FABRY DISEASE GENE SEQUENCING DBS, WB, SV GAA POMPE DISEASE - ACID ALPHA-GLUCOSIDASE ENZYME ANALYSIS DBS, WB GAAS GAA POMPE DISEASE GENE SEQUENCING DBS, WB, SV GALC KRABBE DISEASE - GALACTOCEREBROSIDASE ENZYME ANALYSIS DBS, WB GALCS GALC KRABBE DISEASE GENE SEQUENCING DBS, WB, SV GALNS MPS IVA (MORQUIO A SYNDROME) - GALACTOSAMINE-6-SULFATASE ENZYME ANALYSIS DBS, WB GALNSS GALNS MUCOPOLYSACCHARIDOSIS IVA (MORQUIO SYNDROME A) GENE SEQUENCING DBS, WB, SV ABG GAUCHER DISEASE - GLUCOCEREBROSIDASE (GLUCOSYLCERAMIDASE) ENZYME ANALYSIS DBS, WB GBAS GBA GAUCHER DISEASE GENE SEQUENCING DBS, WB, SV IDS MPS II (HUNTER DISEASE) - IDURONATE 2-SULFATASE ENZYME ANALYSIS DBS, WB IDSS IDS MUCOPOLYSACCHARIDOSIS II (HUNTER DISEASE) GENE SEQUENCING DBS, WB, SV IDUA MPS I (HURLER SYNDROME) - ALPHA-L-IDURONIDASE ENZYME ANALYSIS DBS, WB

5 TEST CODE DESCRIPTION SPECIMEN IDUAS IDUA MUCOPOLYSACCHARIDOSIS I (HURLER SYNDROME) GENE SEQUENCING DBS, WB, SV ASM NIEMANN PICK DISEASE TYPE A/B - ACID SPHINGOMYELINASE ENZYME ANALYSIS DBS, WB SMPD1S SMPD1 NIEMANN-PICK DISEASE TYPE A/B GENE SEQUENCING DBS, WB, SV GLB1S GLB1 MUCOPOLYSACCHARIDOSIS IVB (GM1 GANGLIOSIDOSIS) GENE SEQUENCING DBS, WB, SV GUSBS GUSB MUCOPOLYSACCHARIDOSIS VII GENE SEQUENCING DBS, WB, SV SUMF1S SUMF1 MULTIPLE SULFATASE DEFICIENCY GENE SEQUENCING DBS, WB, SV

DUCHENNE MUSCULAR DYSTROPHY DMDCK DUCHENNE MUSCULAR DYSTROPHY CREATINE KINASE ACTIVITY DBS, WB DMD DMD DUCHENNE MUSCULAR DYSTROPHY DELETION/DUPLICATION DBS, WB, SV DMDS DMD DUCHENNE MUSCULAR DYSTROPHY GENE DELETION/ DUPLICATION AND SEQUENCING DBS, WB, SV

CYSTIC FIBROSIS TEST CODE DESCRIPTION SPECIMEN IRT CYSTIC FIBROSIS IRT ANALYSIS (NOT VALID AFTER 90 DAYS OF AGE) DBS, WB IRTEXT CYSTIC FIBROSIS MUTATION PANEL DBS, WB, SV CFTRS CFTR CYSTIC FIBROSIS GENE SEQUENCING DBS, WB, SV

GALACTOSEMIA GAL GALACTOSEMIA - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB GALMON GALACTOSEMIA MONITORING - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE ENZYME ANALYSIS AND TOTAL GALACTOSE. DBS, WB GALDNA GALACTOSEMIA MUTATION PANEL DBS, WB GALTS GALT GALACTOSEMIA GENE SEQUENCING DBS, WB, SV GALES GALE GALACTOEPIMERASE DEFICIENCY GENE SEQUENCING DBS, WB, SV GALK GALK GALACTOSEMIA GENE SEQUENCING DBS, WB, SV

BIOTINIDASE DEFICIENCY BIO BIOTINIDASE DEFICIENCY (COMPLETE/PARTIAL) - BIOTINIDASE ENZYME ANALYSIS DBS, WB BIODNA BIOTINIDASE DEFICIENCYMUTATION PANEL DBS, WB, SV BTDS BTD BIOTINIDASE GENE SEQUENCING DBS, WB, SV

HEMOGLOBINAPATHIES HGB SICKLE CELL & OTHER HEMOGLOBINOPATHIES - ISOELECTRIC FOCUSING GEL ELECTROPHORESIS OF HEMOGLOBINS DBS, WB HGBDNA SICKLE CELL & OTHER HEMOGLOBINOPATHIES MUTATION PANEL DBS, WB

OTHER REANAL REANALYSIS AND REINTERPRETATION (PANEL, EXOME, GENOME) SANINT SANGER CONFIRMATION AND INTERPRETATION ONLY SAN SANGER CONFIRMATION ONLY **Please refer to the WES and WGS requisition forms for ordering whole exome and whole genome sequencing.

FOR ADDITONAL TESTING: PLEASE WRITE IN ADDITIONAL TESTING NEEDED. PROVIDE AS MANY DETAILS AS POSSIBLE.

Please mail requisition form, informed consent, and test sample to 90 Emerson Lane #1403, Bridgeville, PA 15017

6 PHENOTYPE(S) / PATIENT HISTORY (CHECK ALL THAT APPLIES)

A. NEUROLOGY B. METABOLISM 2. Skin and integument 3. Endocrine

1. Behavioral abnormality 1. Abnormal creatine kinase 2.1 Abnormal skin pigmentation 3.1 Diabetes mellitus

1.1 Autism 2. Decreased plasma carnitine 2.2 Abnormal hair 3.2 Hypo / hyperparathyroidism

1.2 Attention deficit disorder 3. Hyperalaninemia 2.3 Abnormal nail 3.3 Hypo / hyperthyroidism

1.3 Psychiatric diseases 4. Hypoglycemia 2.4 Hyperextensible skin H. Reproduction

2. Brain imaging 5. Increased CSF lactate 2.5 Ichthyosis 1. Abnormal external genitalia

2.1 Abnormal myelination 6. Increased serum pyruvate F. CARDIOVASCULAR 2. Abnormal internal genitalia

2.2 Abnormal cortical gyration 7. Ketosis 1. Angioedema 3. Hypogonadism

2.3 Agenesis of corpus callosum 8. Lactic acidosis 2. Aortic dilatation 4. Hypospadias

2.4 Brain atrophy 9. Organic aciduria 3. Arrhythmia 5. Infertility

2.5 Cerebellar hypoplasia C. EYE 4. Coarctation of aorta I. Oncology

2.6 Heterotopia 1. Blepharospasm 5. Defect of atrial septum 1. Adenomatous polyposis

2.7 Holoprosencephaly 2. Cataract 6. Defect of ventricular septum 2. Breast carcinoma

2.8 Hydrocephalus 3. Coloboma 7. Dilated Cardiomyopathy 3. Colorectal carcinoma

2.9 Leukodystrophy 4. Glaucoma 8. Hypertension 4. Leukemia

2.10 Lissencephaly 5. Microphthalmos 9. Hypertrophic Cardiomyopathy 5. Myelofibrosis

3. Developmental delay 6. Nystagmus 10. Hypotension 6. Neoplasm of the lung

3.1 Delayed motor development 7. Ophthalmoplegia 11. Lymphedema 7. Neoplasm of the skin

3.2 Delayed language development 8. Optic atrophy 12. Malf. of heart and great vessels 8. Paraganglioma

3.3 Developmental regression 9. Ptosis 13. Myocardial infarction 9. Pheochromocytoma

3.4 Intellectual disability 10. Retinitis pigmentosa 14. Stroke J. HEMATOLOGY AND IMMUNOLOGY

4. Movement abnormality 11. Retinoblastoma 15. Tetralogy of Fallot 1. Abnormality of coagulation

4.1 Ataxia 12. Strabismus 16. Vasculitis 2. Anemia

4.2 Chorea 13. Visual impairment G. GASTROINTESTINAL, 3. Immunodeficiency GENITOURINARY, ENDOCRINE 4.3 Dystonia D. MOUTH, THROAT AND EAR 4. Neutropenia 1. Gastrointestinal 4.4 Parkinsonism 1. Abnormality of dental color 5. Pancytopenia 1.1 Aganglionic megacolon 5. Neuromuscular abnormality 2. Cleft lip / palate 6. Abnormal hemoglobin 1.2 Constipation 5.1 Muscular hypotonia 3. Conductive hearing impair. 7. Splenomegaly 1.3 Diarrhea 5.2 Muscular hypertonia 4. External ear malformation 8. Thrombocytopenia 1.4 High hepatic transaminases 5.3 Hyperreflexia 5. Hypodontia K. PRENATAL AND DEVELOPMENT 1.5 Gastroschisis 5.4 Spasticity 6. Sensoneural hearing impair. 1. Dysmorphic facial features 1.6 Hepatic failure 6. Seizures E. SKIN, INTEGUMENT 2. Failure to thrive AND SKELETAL 1.7 Hepatomegaly 6.1 Febrile seizures 3. Hemihypertrophy 1. Skeletal 1.8 Obesity 6.2 Focal seizures 4. Hydrops fetalis 1.1 Abnormal limb morphology 1.9 Pyloric stenosis 6.3 Generalized seizures 5. IUGR 1.2 Abnormal skeletal system 1.10 Vomiting 7. Others 6. Oligohydramnios 1.3 Abnormal vertebral column 2. Genitourinary 7.1 Craniosynostosis 7. Overgrowth 1.4 Joint hypermobility 2.1 Abnormal renal morphology 7.2 Dementia 8. Polyhydramnios 1.5 Multiple joint contractures 2.2 Abnormal urinary system 7.3 Encephalopathy 9. Premature birth 1.6 Polydactyly 2.3 Hydronephrosis 7.4 Headache/ Migraine 10. Short stature 1.7 Scoliosis 2.4 Renal agenesis 7.5 Macrocephaly 11. Tall stature 1.8 Syndactyly 2.5 Renal cyst 7.6 Microcephaly 1.9 Talipes equinovarus 2.6 Renal tubular dysfunction 7.7 Neuropathy

7.8 Stroke

7 BIOCHEMICAL AND MOLECULAR INFORMED CONSENT FORM PerkinElmer Genetics, Inc., and its affiliates, contractors and assigns, (“PerkinElmer”) requires a completed Patient’s Informed Consent. The Patient’s Informed Consent must be completed by the patient or a legally authorized representative of the patient. For any patient below the age of majority, the Patient’s Informed Consent must be completed by the patient’s legally authorized representative. TEST INFORMATION Your health care provider identified below (“HCP”) has recommended that you receive the Depending what type of sample is required, the risks of having your Sample collected may testing indicated in the requisition form on page ___ (the “Tests”). You are not obligated to include mild pain, bruising, swelling, redness, a slight risk of infection, light-headedness, fainting undergo the Tests, and there is no penalty if you decline, except that refusal may result in or nausea if providing a blood or tissue sample. These side-effects are typically brief and improper diagnosis or treatment or other adverse consequences. transient, and you should contact your HCP if you require treatment. A genetic test will be used to identify what, if any, mutation is causing the disease. Identifying A positive genetic test result may become part of your permanent medical record and may have the mutation may be useful for diagnostic and treatment purposes, and allows at-risk family a negative impact on your access to health insurance or life insurance coverage and members to be tested. No analysis will be performed on any other genes. employability. You or your family members may also experience anxiety before, during, and/or after the Tests if you have concerns over the results. If you consent to these Tests, your HCP will take your sample which could be blood, saliva, body fluid, tissue specimen, or other samples and is required for isolation and purification of Providing a Sample and undergoing the Tests is voluntary and you may withdraw your consent DNA for molecular genetic testing. The test will cover all diseases or condition requested on at any time as to any Sample or data that has not been anonymized. If you withdraw your the PerkinElmer Genetics requisition form. Your HCP will provide PerkinElmer with your name, consent, no additional analysis will be carried out on your identifiable Sample and no results date of birth, gender, symptoms Personal Information (“PI”), and a tracking number. This will be reported. There is no penalty for withdrawing your consent. information is necessary to perform the Tests and report results back to your HCP. You have Pursuant to laboratory best practices, your Sample, PI, the data from the Tests (including those the right to confidential treatment of the Sample and your PI. performed before any withdrawal of consent), and the related reports will be retained by Unless required by Law, PerkinElmer will not disclose your identifiable information to any person PerkinElmer for two years, then destroyed. In some instances, there may be a benefit to having except as you authorize in this form or with your further written consent. your Sample and PI retained for a longer period for additional testing. If this is the case, PerkinElmer will retain your sample for a longer period if properly instructed by you or Under some circumstances, including inadequate or poor quality sample, an additional sample your HCP. may be required for Tests to be performed. If you consent, PerkinElmer will anonymize and retain data and related reports from your Your Sample will be sent to PerkinElmer’s laboratories in Pennsylvania or Connecticut for Tests indefinitely for its internal statistical and quality analysis, research, scientific and technical testing. Your PI will be kept confidential, and accessible only to PerkinElmer’s lab technicians development, and market research. If you consent, PerkinElmer will anonymize and retain and support personnel, including contractors, necessary for performing the Tests, analysis, and your Sample indefinitely for internal quality control, test validation, and assay development and reporting results. improvement. Future analyses of the anonymized data, reports, and the Sample may be Your treating HCP has sole responsibility for all decisions concerning the possible management conducted by third parties. By allowing PerkinElmer to retain your Sample, you understand of your diagnosis and disease, and PerkinElmer will not provide a diagnosis. A negative result and agree that you give up any property rights you may have in the Sample and are donating from the Tests cannot rule out the genetic diseases/conditions being testing for or other it to PerkinElmer Health Sciences, Inc. disorders, but the benefit of the Tests is they may assist your HCP in making a diagnosis. PerkinElmer will provide reports from the Tests only to your HCP via a secure internet portal or For additional Information go to www.perkinelmergenetics.com email. Your HCP will tell you the results of the Tests and may refer you to a specialist center for clinical evaluation and confirmation of diagnosis if you test positive. PATIENT’S INFORMED CONSENT TO TESTING I have read and understood the Test Information, including the explanation of why my sample is being tested, how genetic testing is performed and the risks associated with genetic testing. I understand this consent is voluntary and is valid until I withdraw my consent. I understand that I may withdraw my consent at any time as to future activity, but the Tests will not be performed unless I provide consent to testing. If I withdraw my consent, it will not affect actions taken before I withdrew my consent, including any anonymization of data or my Sample, or sharing of anonymized data. I understand that if I consent, my sample will undergo genetic testing (the “Tests”) for the genetic diseases/conditions indicated on the requisition form. I agree that reports from the Tests will be provided only to my health care provider (“HCP”) to assist my HCP with diagnosis. I have had the opportunity to ask my HCP questions about the genetic diseases/condition and the Tests, the limitations, risk and benefits of the Tests, and the consequences of a positive diagnosis, and my questions have been answered. I understand that I am not required to provide the Additional Informed Consent to Data and Sample Retention, and that the Tests will be performed whether or not I provide those additional consents. I acknowledge that I have been informed by my HCP about the availability and importance of genetic counseling, and that I have been provided with written information identifying a genetic counselor or medical geneticist. I understand that my legal representative and I are entitled to copies of this form. I hereby consent to (check all that apply): Collection by my HCP of my sample (a “Sample”) and personal information, including name, gender, date of birth and symptoms (“PI”). My Sample and PI being shipped by my HCP by common courier to PerkinElmer Genetics, Inc. (“PerkinElmer”) in Pennsylvania, USA for the accessioning and processing. PerkinElmer shipping Sample from Pennsylvania to Connecticut, USA for genetic testing. PerkinElmer processing and using my Sample and PI to perform the Tests. PerkinElmer manipulating my PI to perform and interpret the Tests. PerkinElmer storing Sample for 2 years pursuant to laboratory best practices, and then destroying my Sample in accordance with United States law and clinical laboratory best practices. PerkinElmer retaining results of the Tests and associated reports for 2 years pursuant to laboratory best practices, and then destroying them. If you want your Sample retained for a longer period, please contact your HCP. PerkinElmer informing my HCP of the results of the Tests over a secure internet portal. Patient Name: Date: Patient Address: Patient / Representative Signature: Representative Name (if applicable): INFORMED CONSENT TO ANONYMIZED DATA RETENTION AND USE I understand I am not required to give this consent to data I understand I am not required to give this consent to sharing I understand I am not required to give this consent to retention and use and whether or not I give this consent to with third-parties and whether or not I give this consent has PerkinElmer retaining my Sample in anonymized form, and data retention and use has no bearing on the Tests. no bearing on the Tests. whether or not I give this consent has no bearing on the Tests. I hereby consent to PerkinElmer retaining the results of the I hereby consent to PerkinElmer sharing Anonymized Data Tests and associated reports in an anonymized form with other biomedical and research institutions for statistical I hereby consent to PerkinElmer retaining my sample in untraceable to me (“Anonymized Data”), and using and quality analysis, research, scientific and technical devel- anonymized form for internal quality control, assay develop- Anonymized Data for internal statistical and quality analysis, opment, and market research purposes. Sharing Anonymized ment and improvement and other purposes relating to research, scientific and technical development, and market Data with other biomedical and research institutions for these PerkinElmer’s proper management and administration. Use research purposes. Use of Anonymized Data for these purposes may improve identification of and therapies for of my Sample for these purposes may improve identification purposes may improve identification of and therapies for genetic diseases or conditions. of and therapies for genetic diseases or conditions. genetic diseases or conditions.

YES NO Initials: YES NO Initials: YES NO Initials: 8 THE PATIENT SHOULD DETACH AND RETAIN TOP PORTION FOR HIS OR HER RECORDS

WITHDRAWAL OF CONSENT By completing the below information and returning this completed form to PerkinElmer Genetics, Inc. (“PerkinElmer”) (by sending this completed form by email to PerkinElmerGenetics. [email protected] or fax to 412-220-0785) I am withdrawing my consent as indicated below. I understand this Withdrawal of Consent only applies to Tests, reporting, and anonymization of data and samples that has not already occurred, and any tests, reporting or anonymization already performed cannot be undone.

I hereby withdraw my consent to PerkinElmer: performing the Tests. anonymizing and retaining the results of the Tests. anonymizing and sharing the results of the Tests with third-parties. anonymizing and retaining my Sample. All of the above. Patient Name/Initials/barcode: Date: Healthcare Provider Name: Patient/Representative Signature: Representative Name (if applicable): Completed By: Patient Patient’s Legally Authorized Representative

To contact PerkinElmer, make an inquiry about or correct your data, or file a complaint, please visit www.PerkinElmer.com/Privacy.

9 INFORMED CONSENT FORM - OREGON Only individuals residing in Oregon who are requesting genetic testing must also complete this page. SECTION 1: CHECKLIST TO BE COMPLETED BY THE INDIVIDUAL ORDERING A GENETIC TEST. The individual’s DNA sample will be tested solely for the genetic characteristic below:

(Name of genetic characteristic) PROCESS TO FOLLOW PRIOR TO OBTAINING GENETIC INFORMATION: After each of the points below have been clearly explained to the individual to be tested, or the individual’s personal representative, please initial in the space provided to ensure that the informed consent procedure has been followed.

I have informed the individual that this genetic test is completely voluntary; that he/she has the option of withdrawing consent to the genetic test at any time.

I have explained to the individual the risks and benefits of having a genetic test, including: • a description of the provisions of Oregon law pertaining to the confidentiality of genetic information; • a statement of the potential consequences regarding insurability, employability, and social discrimination if the genetic test results become known to others; • a statement explaining the implications of positive and negative test results, and the availability of support services, including genetic counseling. I have informed the individual that it may be in his/her best interest to retain the DNA sample for future diagnostic testing, but also of his/her right to have the DNA sample promptly destroyed after the specific purpose for which it was tested (unless retention of the sample is otherwise authorized by law). I have informed the individual about the meaning and purpose of the authorization form for disclosure of procedure to a third party payer, including: • an explanation of the potential risks of disclosure to third-party payers that a genetic test has been performed; • an explanation of the individual’s option to pay out-of-pocket for the cost of the genetic testing procedure. I have asked the individual whether he/she has any further questions; and if so, I have provided the individual with an opportunity to ask questions and receive answers from either a genetic counselor, or a person who is sufficiently knowledgeable to give accurate and understandable answers about genetic testing and its implications.

I have asked the individual to read, complete, sign and date this consent form; and provided the individual a copy of this completed form for his/her personal records.

The above referenced information was explained by me, to the individual being tested, and the individual being tested signed this consent form in my presence.

Name of individual ordering genetic test:

Signature of individual ordering genetic test: Date: SECTION 2: INFORMED CONSENT OF INDIVIDUAL CONSENTING TO TESTING TO BE COMPLETED BY THE INDIVIDUAL ORDERING A GENETIC TEST.

It has been explained to me that the procedure to be undertaken is a test of my DNA sample to obtain genetic information solely for the purpose(s) listed below. It has also been explained that consent to this procedure is completely voluntary. I have been told that there are risks and potential consequences regarding employability, insurability and social discrimination that may result from the collection of my genetic information.

Please check one: I have been asked if I want a more detailed explanation of the risks and benefits of genetic testing. I am satisfied with the explanation provided to me and do not need any more information.

I have requested and received further explanation for the proposed genetic test and more information about the potential risks and consequences for the test for me and my family. I am satisfied with the additional information provided to me and do not need any more information.

I have requeste d further explanation of the proposed genetic test and more information about the potential risks and consequences for the test for me and my family, and do not consent to the collection of my genetic information at this time.

I consent to the collection of my genetic information for the purpose of and acknowledge that the results of this test or procedure will be recorded in my confidential medical record.

Name of individual consenting:

Signature of individual consenting: Date: SECTION 3: NOTICE OF YOUR RIGHT TO DECLINE PARTICIPATION IN FUTURE ANONYMOUS OR CODED GENETIC RESEARCH TO BE COMPLETED BY THE INDIVIDUAL BEING TESTED.

(NAME OF HEALTH CARE PROVIDER) The State of Oregon has laws to protect the genetic privacy of individuals. These laws give you the right to decline to have your health information or biological samples used for research. A biological sample may include a blood sample, urine sample, or other materials collected from your body. You can decide whether to allow your health information or biological samples to be available for genetic research. Your decision will not affect the care you receive from your health care provider or your health insurance coverage. Research is important because it gives us valuable information on how to improve health, such as ways to prevent or improve treatment for heart disease, diabetes, and cancer. Under Ore- gon law, a special team reviews all genetic research before it begins. This team makes sure that the benefits of the research are greater than any risks to participants. In anonymous research, personal information that could be used to identify you, like your name or medical record number, cannot be linked to your health information or biological sample. In coded research, personal information that could be used to identify you is kept separate from your health information or biological sample so it would be very difficult for someone to link your personal information to your health information or biological sample. Your identity is protected in both types of research. If you want to allow your health information and biological sample to be available for anonymous or coded genetic research, you don’t have to do anything. If you make this choice, your health information or biological sample may be used for anonymous or coded genetic research without further notice to you. If you want to decline to have your health information and biological sample available for anonymous or coded genetic research, you must tell your health care provider by: • Completing this form and giving it to your health care provider • Completing this form and mailing it to your health care provider the address provided Your decision is effective on the date your health care provider receives this form. If you have any questions or concerns about this notice, please contact your health care provider. No matter what you decide now, you can always change your mind later. If you change your mind, tell your health care provider your decision in writing by a means indicated by your health care provider. If you change your mind, the new decision will apply only to health information or biological samples collected after your health care provider receives written notice of your new decision. I decline to have my health information and biological samples available for anonymous or coded genetic research.

Printed Name: Date of Birth:

Signature: Date: 10 INFORMED CONSENT FORM - NEVADA Only individuals residing in Nevada who are requesting genetic testing must also complete this page.

As used in this document, “genetic information” means any information that is obtained from a genetic test.

1. I understand that no insurer or corporation that provides health insurance, carrier serving small employers or health maintenance organization may:

(a) Require me or any member of my family to take a genetic test;

(b) Require me to disclose whether I or any member of my family has taken a genetic test;

(c) Request my genetic information or the genetic information of a member of my family; or (d) Determine the rates or any other aspect of the coverage or benefits for health care for me or my family based on whether I or any member of my family has taken a genetic test or based on my genetic information or the genetic information of any member of my family.

2. I also understand that:

(a) I have the right to receive the results of a genetic test, in writing, within 10 working days after the person conducting the test has received the results. The written results must indicate that, except as otherwise provided in chapter 629 of NRS, my genetic information may not be obtained, retained or disclosed without first obtaining my in formed consent. (b) It is unlawful for a person or entity to obtain my genetic information without my informed consent, unless the information is obtained; (1) By a federal, state, county or city law enforcement agency to establish the identity of a person or a dead human body; (2) To determine the parentage or identity of a person in certain circumstances; (3) To determine the paternity of a person in certain circumstances; (4) For use in a study where the identities of the persons from whom the genetic information is obtained are not disclosed to the person conducting the study; (5) To determine the presence of certain inheritable disorders in an infant in certain circumstances; or (6) Pursuant to an order of a court of competent jurisdiction.

(c) It is unlawful for a person to retain genetic information that identifies me without first obtaining my informed consent, unless retention of the genetic information is: (1) Necessary to conduct a criminal investigation, an investigation concerning the death of a person or a criminal or juvenile proceeding; (2) Authorized pursuant to an order of a court of competent jurisdiction; or (3) Necessary for certain medical facilities to maintain my medical records.

(d) If I have authorized a person to retain my genetic information, I may request that the person destroy the genetic information. Such a person shall destroy the information, unless retention of the information is: (1) Necessary to conduct a criminal investigation, an investigation concerning the death of a person or a criminal or juvenile proceeding;

(2) Authorized by an order of a court of competent jurisdiction;

(3) Necessary for certain medical facilities to maintain my medical records; or

(4) Authorized or required by state or federal law.

(e) Except as otherwise provided by federal law or regulation, a person who obtains my genetic information for use in a study shall destroy the information upon completion of the study or my withdrawal from the study, whichever occurs first, unless I authorize the person conducting the study to retain my genetic information after the study is completed or upon my withdrawal from the study.

(f) It is unlawful for a person to disclose or to compel another person to disclose my identity if I was the subject of a genetic test or to disclose to another person genetic information that allows the other person to identify me without first obtaining my informed consent, unless the information is disclosed:

(1) To conduct a criminal investigation, an investigation concerning the death of a person or a criminal or juvenile proceeding;

(2) To determine the parentage or identity of a person in certain circumstances;

(3) To determine the paternity of a person in certain circumstances;

(4) Pursuant to an order of a court of competent jurisdiction;

(5) By a physician after I am deceased and my genetic information will assist in the medical diagnosis of persons related to me by blood;

(6) To a federal, state, county or city law enforcement agency to establish the identity of a person or dead human body;

(7) To determine the presence of certain inheritable preventable disorders in an infant in certain circumstances; or (8) By an agency of criminal justice in certain circumstances.

I, (name of person giving consent), hereby give my consent to

(name of health care provider person obtaining genetic information) to obtain my genetic information;

I, (name of person giving consent), hereby give my consent to PerkinElmer Genetics, Inc. to disclose my genetic information to (name of health care provider ordering test).

This consent document is valid until (date of expiration).

If the person tested is unable to sign, please indicate the reason here:

Signature of consenting person or his or her legal representative: Date:

Witness: Date:

11