British Columbia Laboratory Requisition This Requisition Form, When Completed, Constitutes a Referral to Lifelabs/BC Biomedical Laboratories Physicians

1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany British Columbia Laboratory Requisition This requisition form, when completed, constitutes a referral to LifeLabs/BC Biomedical Laboratories physicians. Please ship NON-PRENATAL SAMPLES to: LIFELABS • Attn: CDS Department 100 International Boulevard• Toronto ON• M9W6J6 Attention Patient: Please visit your nearest LifeLabs or BCBiomedical Patient Service Centre for sample collection TO BE COMPLETED BY ORDERING DOCTOR AND PATIENT Patient Name (from CareCard or other ID) Gender Date of Birth Male Female YEAR MONTH DAY Patient Address Telephone Number Patient Email Bill to Patient: ✓(no charge at PSC) Doctor Name MSC # Organization

Address Fax Number Telephone Number Email

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Genetic Test - mnemonic ACG (Blood sample 2 x 4mL EDTA)

Genetic Test (Pediatric) - mnemonic CEN (Blood sample 1 x 2mL EDTA)

Genetic Test (Other Sample Type) - mnemonic OCG (other sample type) PRENATAL SAMPLES: Please ship directly to CENTOGENE.

Privacy Statement: The personal information collected on this form is collected under the authority of the Personal Information Protection act. The personal information is used to provide medical services requested on this requisition. The information collected is used for quality assurance management and disclosed to healthcare practitioners involved in providing care or when required or permitted by law. Personal information is protected from unauthorized use and disclosure in accordance with the Personal Information Protection act and when applicable the e-health act and/or the Freedom of Information and Protection of Privacy act and may be used and disclosed only as provided by those acts. our privacy policies are available at www.bcbio.com and www.lifelabs.com.

Genetic Testing Consent I understand that a DNA specimen will be sent to LifeLabs for genetic testing. My physician has told me about the condition(s) being tested and its genetic basis. I am aware that correct information about the relationships between my family members is important. I agree that my specimen and personal health information may be sent to Centogene AG at their lab in Germany (address below). To ensure accurate testing, I agree that the results of any genetic testing that I have had previously completed by Centogene AG may be shared with LifeLabs. I understand that LifeLabs will contact me for a new specimen if a test result cannot be provided from the original specimen. I agree that a copy of my results will be sent to my ordering physician. I further agree that for any test(s) performed by Centogene AG, a copy of my results will also be sent to LifeLabs. I understand that once the requested test(s) has/have been completed, any remaining sample will be stored at the testing laboratory.

OPTIONAL CONSENT: Please Initial where appropriate

I agree that my de-identified sample may be used for product development or research purposes. I understand that I will not receive any royalties, resultant payments, benefits or rights to products or discoveries. I do not want my remaining sample to be stored. Please destroy any remaining sample once the final report has been issued. I have had genetic testing completed in the past by the following laboratories: I agree that Centogene AG and LifeLabs may obtain a copy of these genetic test results from the testing laboratory.

Patient/Substitute Decision Maker:

Signature: Date(YY/MM/DD):

Printed name: relationship to person being tested: OR I certify that verbal consent was obtained from the patient /substitute decision maker for the requested genetic testing

Signature: Date(YY/MM/DD):

For appointments at LifeLabs Patient Service Centres please call 1-855-412-4495. For appointments at BC Biomedical Patient Service Centres please call 1-877-507-5595

Date Doctor Signature

YEAR MONTH DAY TO BE COMPLETED BY LABORATORY STAFF Date /Time of Collection Phlebotomist

YEAR MONTH DAY

**Laboratory Staff: Photocopy Requisition and include one copy with samples in box** LL-GCG-001 - Ver 2 – JAN 2015

Page 1/5 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015

GENETIC TESTING REQUISITION ENDOCRINE, DIGESTION UROGENITAL 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Sample Type: □ *Blood (EDTA: 5mL for single gene, 10mL for panel)

□ DNA (single gene:1-10ug, panel 10-100ug)

□ *Filter card (1 card/30 exons: Available by request) LifeLabs Demographic □ Saliva (Oragene OG-510: Available by request) Label

□ Fibroblast/Skin Biopsy (0.5cm2)

□ Cultured cells (1 flask, min 25cm2, 80-90% confluent)

□ **Amniotic fluid (10mL)

□ **Chorionic Villus (10 villi, cleaned) □ Other: ______

* Exact amount depends on size of panel, see www.centogene.com ** Please contact us prior to sending cells

Billing Status: □ Ministry of Health Approved (Approval letter attached) □ Ministry of Health Approval Pending

□ Institution (Complete information below) □ Private Pay (Complete information below)

Institution Billing ONLY: Institution Name: ______Contact Name: ______

Address:

Phone: ( ) - Fax: ( ) - Email: ______Private Pay ONLY: Credit Card Type: □ MasterCard □ Visa

Card Number______Exp Date(MM/YY)______

Name (as it appears on credit card)______I understand that my credit card will be charged for the full amount of testing not paid for by my provincial health plan

Cardholder Signature: ______Date (DD/MM/YYYY)______

Patient Information: Gender: □M □ F Ethnicity: ______Additional patient medical information:

Relevant Family history:

Have other family members submitted samples to Centogene for analysis? □Y □ N If yes, Name:______Relationship to patient ______

DOB (YYYY/MM/DD):______

Familial Mutation Testing Gene:______Mutation (HGVS):______□Familial Report attached

Testing Instructions: (ex: Reflex order) ** PLEASE INCLUDE A COPY OF REQUISITION WITH SAMPLES **

Page 2/5 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015

GENETIC TESTING REQUISITION ENDOCRINE, DIGESTION UROGENITAL 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Please indicate requests for Hot Spot (H), Sequencing (S), Repeat Expansion (R) and/or Deletion/Duplication (D) analysis Endocrine Disorders

NGS Panels:

D S Diabetes neonatal panel (ABCC8, FOXP3, G6PC2, GCK GLIS3, INS, INSR, KCNJ11, NEUROG3, PDX1)

D S Kallmann syndrome panel (CHD7, FGFR1, FGF8, GNRHR, GNRH1, KAL1, KISS1R, PROK2, PROKR2, SEMA3A, TACR3) D S MODY panel (ABCC8, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KLF11, NEUROD1, NKX2-2, PAX4, PDX1, RFX6, ZFP57) Single genes:

D S 17-beta hydroxysteroid dehydrogenase X deficiency (HSD17B10) D S Kallmann syndrome, SEMA3A related (SEMA3A) D S 3-beta-hydroxysteroid dehydrogenase deficiency type 2 (HSD3B2) D S Laron syndrome (GHR) H D S Achalasia addisonianism alacrimia syndrome (AAAS) D S Leydig cell adenoma (LHCGR) D S Adrenal hyperplasia due to 21-hydroxylase deficiency (CYP21A2) D S Lipoid congenital adrenal hyperplasia (STAR) D S Adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (POR) D S Multiple endocrine neoplasia type 1 (MEN1) D S Adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency (CYP11B1) D S Maturity-onset diabetes of the young NKX2-2 related (NKX2-2) D S Adrenal hypoplasia (NR0B1) D S Maturity-onset diabetes of the young RFX6 related (RFX6) Adrenal insufficiency, congenital, with 46XY sex reversal, partial/complete D S H D S (CYP11A1) Maturity-onset diabetes of the young type 1 (HNF4A) R S Androgen insensitivity (AR) D S Maturity-onset diabetes of the young type 2 (GCK) D S Diabetes insipidus, nephrogenic, autosomal (AQP2) D S Maturity-onset diabetes of the young type 3 (HNF1A) D S Diabetes insipidus nephrogenic X-Linked (AVPR2) D S Maturity-onset diabetes of the young type 4 (PDX1) D S Diabetes mellitus insulin-resistant with acanthosis nigricans (INSR) D S Maturity-onset diabetes of the young type 5 (HNF1B) D S Diabetes mellitus neonatal (GLIS3) D S Maturity-onset diabetes of the young type 6 (NEUROD1) H D S Diabetes mellitus noninsulin-dependent (KCNJ11) D S Maturity-onset diabetes of the young type 7 (KLF11) D S Diabetes mellitus permanent neonatal (G6PC2) D S Maturity-onset diabetes of the young type 8 (CEL) D S Diabetes mellitus permanent neonatal (NEUROG3) D S Maturity-onset diabetes of the young type 9 (PAX4) H D S Diabetes mellitus type 1 (INS) H D S Maturity-onset diabetes of the young type 10 (INS) D S DiGeorge syndrome (TBX1) H D S Maturity-onset diabetes of the young type 11 (BLK) D S Glycine encephalopathy (AMT) D S Maturity-onset diabetes of the young ZFP57 related (ZFP57) D S Glycine encephalopathy (GLDC) D S Microvascular complications of diabetes 1 (VEGFA) D S Growth hormone deficiency (GH1) H D S Multiple endocrine neoplasia type 2A (RET) D S Growth hormone deficiency (GHRHR) H D S Multiple endocrine neoplasia type 2B (RET) D S Hyperaldosteronism type 3 (KCNJ5) D S Obesity (MC4R) D S Hypoaldosteronism congenital due to CMO I deficiency (CYP11B2) D S Obesity due to leptin deficiency (LEP) D S Hypogonadotropic hypogonadism (KISS1) D S Obesity with adrenal insufficiency and red hair (POMC) D S Hypogonadotropic hypogonadism (KISS1R) D S Obesity with impaired prohormone processing (PCSK1) D S Hypogonadotropic hypogonadism (LHB) D S Obesity, early-onset, susceptibility to (POMC) D S Hypogonadotropic hypogonadism (NSMF) D S Panhypopituitarism, X-linked (SOX3) D S Hypogonadotropic hypogonadism 7 with or without anosmia (GNRHR) D S Pendred syndrome (SLC26A4) D S Hypogonadotropic hypogonadism type 10 with or without anosmia (TAC3) D S Pituitary adenoma, growth hormone secreting (GNAS) D S Hypogonadotropic hypogonadism 11 with or without anosmia (TACR3) D S Pituitary adenoma, growth hormone-secreting (AIP) D S Hypogonadotropic hypogonadism 12 with or without anosmia (GNRH1) D S Pituitary hormone deficiency type 1 (POU1F1) D S Hypogonadtropic hypogonadism type 14 (WDR11) D S Pituitary hormone deficiency type 2 (PROP1) Hypogonadism, alopecia, Diabetes mellitus, mental retardation and extrapyramidal D S D S syndrome (DCAF17) Pituitary hormone deficiency, combined type 3 (LHX3) D S Hypoparathyroidism-retardation-dysmorphism syndrome (TBCE) D S Pituitary hormone deficiency, combined type 4 (LHX4) D S Hypophosphatemic rickets, autosomal dominant (FGF23) D S Polycystic ovary syndrome type 1 (SULT2A1) D S Hypophosphatemic rickets, autosomal recessive type 1 (DMP1) D S Polycystic ovary syndrome type 1 (SULT2B1) D S Hypophosphatemic rickets, autosomal recessive type 2 (ENPP1) R S Premature ovarian failure type 1 (FMR1) D S Hypophosphatemic rickets, X-linked (PHEX) D S Pseudohypoaldosteronism, type 1, autosomal dominant (NR3C2) D S Hypothyroidism congenital nongoitrous type 1 (TSHR) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1A) D S Hypothyroidism congenital nongoitrous type 2 (PAX8) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1B) D S Hypothyroidism congenital nongoitrous type 4 (TSHB) D S Pseudohypoaldosteronism, type 1, autosomal recessive (SCNN1G) D S Hypothyroidism congenital nongoitrous type 6 (THRA) D S Pseudohypoaldosteronism, type 2B (WNK4) D S Hyperinsulinemic hypoglycemia type 1 (ABCC8) D S Rickets, vitamin D-resistant, type 2A (VDR) H D S Hyperinsulinemic hypoglycemia type 2 (KCNJ11) D S Rickets, vitamin D 25-hydroxylation-deficient, type 1B D S Hyperinsulinemic hypoglycemia type 3 (GCK) D S SERKAL syndrome (WNT4) D S Hyperinsulinemic hypoglycemia type 6 (GLUD1) D S Thyroid dyshormonogenesis type 1 (SLC5A5) D S IMAGe syndrome (CDKN1C) D S Thyroid dyshormonogenesis type 2A (TPO) D S Insulin-like growth factor resistance (IGF1R) D S Thyroid dyshormonogenesis type 3 (TG) D S Kallmann syndrome type 1 (KAL1) D S Thyroid dyshormonogenesis type 6 (DUOX1) D S Kallmann syndrome type 2 (FGFR1) D S Thyroid dyshormonogenesis type 6 (DUOX2) D S Kallmann syndrome type 3 (PROKR2) H D S Thyroid hormone metabolism abnormal (SECISBP2) D S Kallmann syndrome type 4 (PROK2) D S Thyroid hormone resistance (THRB) D S Kallmann syndrome type 5 (CHD7) D S Ulnar-Mammary syndrome (TBX3) D S Kallmann syndrome type 6 (FGF8) D S Wolcott-Rallison syndrome (EIF2AK3)

Page 3/5 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015

GENETIC TESTING REQUISITION ENDOCRINE, DIGESTION UROGENITAL 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD): Urogenital Disorders

NGS Panels:

D S Alport syndrome panel (COL4A3, COL4A4, COL4A5) D S Atypical hemolytic uremic syndrome panel (ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE, THBD) (ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, D S Bartter Syndrome panel SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A5, SLC12A7, SLC4A1, SLC4A4, SLC4A5, WNK1, WNK4) D S Focal Glomerulonephrosis panel (ACTN4,TRPC6,WT1,NPHS1,NPHS2,CD2AP) D S Nephronophthisis panel (NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8, SDCCAG8, ZNF423) D S Nephrotic syndrome panel (ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2, PLCE1, WT1) D S Polycystic kidney panel (BICC1, PKD1, PKD2, NOTCH2, PKHD1) Single genes:

D S Alport syndrome, autosomal recessive (COL4A3) D S Nephronophthisis type 3 (NPHP3) D S Alport syndrome, autosomal recessive (COL4A4) D S Nephronophthisis type 4 (NPHP4) D S Alport syndrome, X-Linked (COL4A5) D S Nephronophthisis type 7 (GLIS2) D S Bartter syndrome (SLC12A2) D S Nephronophthisis type 9 (NEK8) D S Bartter syndrome (SLC12A3) D S Nephronophthisis type 12 (TTC21B) D S Bartter syndrome (SLC12A5) D S Nephronophthisis type 14 (ZNF423) D S Bartter syndrome (SLC12A7) D S Nephronophthisis type 15 (CEP164) D S Bartter syndrome CASR related (CASR) D S Nephronophthisis type 16 (ANKS6) D S Bartter syndrome type 1 (SLC12A1) D S Nephronophthisis-like nephropathy 1 (XPNPEP3) D S Bartter syndrome type 2 (KCNJ1) H D S Nephrosis, Finnish type (NPHS1) D S Bartter syndrome type 3 (CLCNKB) D S Nephrotic syndrome (NPHS2) D S Bartter syndrome type 4a (BSND) H D S Nephrotic syndrome type 2 (NPHS1) D S Bartter syndrome type 4b (CLCNKA) D S Nephrotic syndrome type 3 (PLCE1) D S Branchiootorenal syndrome type 1 (EYA1) D S Nephrotic syndrome type 4 (WT1) D S Branchiootorenal syndrome type 2 (SIX5) D S Nephrotic syndrome type 5 (LAMB2) D S Denys-Drash syndrome (WT1) R S Nephrotic syndrome type 7 (DGKE) D S Faciogenital dysplasia, Aarskog-Scott (FGD1) D S Nephrotic syndrome type 8 (ARHGDIA) D S Focal segmental glomerulosclerosis type 1 (ACTN4) D S Oral-facial-digital syndrome type 1 (OFD1) D S Focal segmental glomerulosclerosis type 2 (TRPC6) D S Oral-facial-digital syndrome type 4 (TCTN3) D S Focal segmental glomerulosclerosis type 3 (CD2AP) D S Oral-facial-digital syndrome type 5 (DDX59) D S Focal segmental glomerulosclerosis type 5 (INF2) D S Pallister-Hall syndrome (GLI3) D S Genitopatellar syndrome (KAT6B) D S Papillorenal syndrome (PAX2) D S Gitelman syndrome (SLC12A3) D S Popliteal pterygium syndrome, lethal type (RIPK4) D S Glomerulosclerosis, focal segmental (ACTN4) D S Polycystic kidney disease type 1, autosomal recessive (PKHD1) D S Hemolytic uremic syndrome (CD46) H D S Polycystic kidney disease type 1, autosomal dominant (PKD1) D S Hemolytic uremic syndrome (CFB) D S Polycystic kidney disease type 2, autosomal dominant (PKD2) D S Hemolytic uremic syndrome (CFH/CFHR fusion genes) D S Renal cystic dysplasia (BICC1) D S Hemolytic uremic syndrome (CFI) D S Renal dysfunction due to SLC26A1 deficiency (SLC26A1) D S Hemolytic uremic syndrome (CFHR1) D S Renal hypoplasia, isolated (PAX2) D S Hemolytic uremic syndrome (CFHR2) D S Renal tubular acidosis (SLC4A5) D S Hemolytic uremic syndrome (CFHR3) D S Renal tubular acidosis with deafness (ATP6V1B1) D S Hemolytic uremic syndrome (CFHR4) D S Renal tubular acidosis, distal, autosomal recessive (ATP6V0A4) D S Hemolytic uremic syndrome (CFHR5) D S Renal tubular acidosis, proximal, with ocular abnormalities (SLC4A4) D S Hemolytic uremic syndrome (THBD) R S Renal tubular dysgenesis (REN) D S Interstitial nephritis karyomegalic (FAN1) D S Renal tubular dysgenesis (ACE) D S Liddle syndrome (SCNN1B) D S Renal tubular dysgenesis (AGT) D S Liddle syndrome (SCNN1G) D S SERKAL syndrome (WNT4) H D S Lipoprotein glomerulopathy (APOE) D S Toe syndactyly, telecanthus, and anogenital andrenal malformations (FAM58A) D S Medullary cystic kidney disease type 2 (UMOD) D S Townes-Brocks syndrome (SALL1) D S Menkes disease (ATP7A) D S Townes-Brocks syndrome (SALL4) D S Nephrogenic syndrome of inapproriate antidiuresis (AVPR2) D S Urofacial syndrome (LRIG2) H D S Nephrolithiasis type I (CLCN5) D S Vesicoureteral reflux type 2 (ROBO2) D S Nephrolithiasis/osteoporosis, hypophosphatemic, type 1 (SLC34A1) D S Vesicoureteral reflux type 3 (SOX17) D S Nephronophthisis type 1 (NPHP1) D S Wilms tumor type 1 (WT1) D S Nephronophthisis type 2 (INVS) D S Wilson diease (ATP7B)

Other NGS Panels:

D S Bardet Biedl panel (ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP) D S Heterotaxy panel (ACVR2B, CFC1, CRELD1, GJA1, GDF1, FOXH1, LEFTY2, NKX2-5, NODAL, ZIC3) D S Hirschsprung disease panel (ECE1, EDN3, EDNRB, GDNF, KIAA1279, NRG1, NRTN, RET, SOX10, ZEB2) (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, EXOC8, INPP5E, KIF7, MSK1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, D S Joubert syndrome panel TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) D S Meckel syndrome panel MKS1, TMEM216, TMEM67, CEP290, RGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231 D S Pancreatitis panel (PRSS1, SPINK1, CFTR, CTRC) Page 4/5 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015

GENETIC TESTING REQUISITION ENDOCRINE, DIGESTION UROGENITAL 1-844-363-4357· [email protected] Schillingallee 68 · 18057 Rostock Germany Patient Name: Patient DOB (YYYY/MM/DD):

Other (continued) Single genes:

D S Antitrypsin-alpha-1 deficiency (SERPINA1) H D S Hirschsprung disease (RET) D S Alagille syndrome type 1 (JAG1) D S Hirschsprung disease (SOX10) D S Alagille syndrome type 2 (NOTCH2) D S Hirschsprung disease (ZEB2) D S Alagille syndrome type 3 (JAG2) D S Hyperbilirubinemia, Rotor type (SLCO1B1) D S Bardet-Biedl syndrome CCDC28B related (CCDC28B) D S Hyperbilirubinemia, Rotor type (SLCO1B3) D S Bardet-Biedl syndrome LZTFL1 related (LZTFL1) D S Hypotonia-cystinuria syndrome (PREPL) H D S Bardet-Biedl syndrome type 1 (BBS1) D S Intrinsic factor deficiency (GIF) H D S Bardet-Biedl syndrome type 2 (BBS2) D S Intestinal atresia, multiple (TTC7A) H D S Bardet-Biedl syndrome type 3 (ARL6) D S Intestinal pseudoobstraction, neuronal (FLNA) H R S Bardet-Biedl syndrome type 4 (BBS4) D S Inflammatory bowel disease type 13 (ABCB1) D S Bardet-Biedl syndrome type 5 (BBS5) D S Johanson Blizzard syndrome (UBR1) H D S Bardet-Biedl syndrome type 6 (MKKS) H D S Joubert syndrome type 1 (INPP5E) H D S Bardet-Biedl syndrome type 7 (BBS7) D S Joubert syndrome type 2 (TMEM216)

D S Bardet-Biedl syndrome type 8 (TTC8) D S Joubert syndrome type 3 (AHI1)

D S Bardet-Biedl syndrome type 9 (BBS9) D S Joubert syndrome type 4 (NPHP1)

H D S Bardet-Biedl syndrome type 10 (BBS10) D S Joubert syndrome type 5 (CEP290)

H D S Bardet-Biedl syndrome type 11 (TRIM32) D S Joubert syndrome type 6 (TMEM67)

H D S Bardet-Biedl syndrome type 12 (BBS12) D S Joubert syndrome type 7 (RPGRIP1L)

H D S Bardet-Biedl syndrome type 13 (MKS1) D S Joubert syndrome type 8 (ARL13B)

H D S Bardet-Biedl syndrome type 15 (WDPCP) D S Joubert syndrome type 9 (CC2D2A)

D Beckwith-Wiedemann syndrome (chr. 11p15) D S Joubert syndrome type 10 (OFD1)

D S Beckwith-Wiedemann syndrome (CDKN1C) D S Joubert syndrome type 13 (TCTN1)

D S Beckwith-Wiedemann syndrome (NSD1) D S Joubert syndrome type 14 (TMEM237)

D S Beckwith-Wiedemann syndrome (KCNQ1OT1) D S Joubert syndrome type 15 (CEP41)

D S Beckwith-Wiedemann syndrome (H19) D S Joubert syndrome type 16 (TMEM138)

H D S Cholestasis (intrahepatic) of pregnancy (ABCB4) D S Joubert syndrome type 17 (C5orf42)

D S Cholestasis progressive intrahepatic type 1 (ATP8B1) D S Joubert syndrome type 18 (TCTN3)

D S Cholestasis progressive intrahepatic type 2 (ABCB11) D S Joubert syndrome type 20 (TMEM231)

H D S Cholestasis progressive intrahepatic type 3 (ABCB4) D S Joubert syndrome type 21 (CSPP1)

D S Congenital short-bowel syndrome (CLMP) D S Joubert syndrome, EXOC8 related (EXOC8)

D S Cystic fibrosis (CFTR) D S Joubert syndrome, EXOSC8 related (EXOSC8)

D S Cystinosis, nephropathic (CTNS) D S Left-right axis malformations (LEFTY2)

D S Cystinuria (SLC3A1) D S Liver failure transient infantile (TRMU)

D S Cystinuria (SLC7A9) D S Lowe oculocerebrorenal syndrome (OCRL)

D S Cystinuria (PREPL) D S Lysinuric protein intolerance (SLC7A7)

D S Diarrhea type 2 with microvillus atrophy (MYO5B) H D S McKusick-Kaufman-Syndrome (MKKS)

D S Dubin-Johnson syndrome (ABCC2) D S Meacham syndrome (WT1)

D S Epstein syndrome (MYH9) H D S Meckel syndrome type 1 (MKS1)

D S Fanconi renotubular syndrome 2 (SLC34A1) D S Meckel syndrome type 3 (TMEM67)

D S Fanconi-Bickel syndrome (SLC2A2) D S Meckel syndrome type 4 (CEP290)

D S Feingold syndrome (MYCN) D S Meckel syndrome type 8 (TCTN2)

H D S Gallbladder disease type 1 (ABCB4) D S Meckel syndrome type 9 (B9D1)

D S Gilbert syndrome (UGT1A1) D S Meckel syndrome type 10 (B9D2)

D S Goldberg-Shprintzen megacolon syndrome (KIAA1279) D S Multiple congenital anomalies-hypotonia-seizures syndrome 1 (PIGN)

D S Hepatic failure, early onset, and neurologic disorder (SCO1) D S Pancreatitis (PRSS1)

D S Heterotaxy, visceral type 1 (ZIC3) D S Pancreatitis (SPINK1)

D S Heterotaxy, visceral type 2 (CFC1) D S Pancreatitis (CFTR)

D S Heterotaxy, visceral type 4 (ACVR2B) D S Pancreatitis (CTRC)

D S Heterotaxy, visceral type 5 (NODAL) D S Pancreatitis, chronic, protection against (PRSS2)

D S Hirschsprung disease (ECE1) D S Perlman Syndrome (DIS3L2) D S Hirschsprung disease (EDN3) D S Senior-Loken syndrome type 7 (SDCCAG8)

D S Hirschsprung disease (EDNRB) D S Smith-Lemli-Opitz syndrome (DHCR7)

D S Hirschsprung disease (GDNF) D S Trichohepatoenteric syndrome type 1 (TTC37)

D S Hirschsprung disease (KIAA1279) D S Trichohepatoenteric syndrome type 2 (SKIV2L)

D S Hirschsprung disease (NRG1) D S VACTERL association (HOXD13)

D S Hirschsprung disease (NRTN)

Page 5/5 The minimum amount of patient information is collected for provision of the service requested. This information is considered confidential and privileged. Unauthorized use and disclosure is prohibited. Requisition V3 Jan2015