BIOCHEMICAL GENETICS LABORATORY l GLYCOGEN STORAGE DISEASE LABORATORY DUKE UNIVERSITY HOSPITAL 801 CAPITOLA DRIVE SUITE 6 DURHAM NC 27713 PHONE: (919) 549-0445 l FAX: (919) 549-0709 l http://pediatrics.duke.edu/labservices

DNA SEQUENCING TEST REQUEST FORM

PATIENT NAME: ______PATIENT DOB: ______HOSPITAL ID: ______SEX: M / F (please circle) DATE AND TIME SAMPLE COLLECTED: ______DATE SAMPLE SHIPPED: ______DATE AND TIME SAMPLE RECEIVED: ______

Please check appropriate boxes Sample type CPT CODES GSD type 1a (Von Gierke disease)  Blood  - Glucose-6-phosphatase (G6PC) gene 83891, 81404  Amniocytes - Full gene sequencing

GSD type 1b   Blood - Glucose-6-phosphate (SLC37A4) gene 83891, 81404  Amniocytes - Full gene sequencing   Blood GSD II (Pompe disease, acid deficiency)   Fibroblast - Acid alpha-glucosidase (GAA) gene 81406  Amniocytes - Full gene sequencing  Chorionic Villi  Blood GSD III (Cori Disease, Forbes Disease)   Fibroblast - Glycogen debranching (AGL) gene 81407  Amniocytes - Full gene sequencing  Chorionic Villi  Blood GSD IV (glycogen branching enzyme deficiency)   Fibroblast - Glycogen branching enzyme (GBE1) gene 83891, 81406  Amniocytes - Full gene sequencing  Chorionic Villi

 GSD V (McArdle disease) - Muscle glycogen phosphorylase (PYGM) gene  Blood 83891, 81406 - Full gene sequencing  GSD IX (phosphorylase kinase deficiency)   Blood PHKA2: 83891, 81407 PHKA2 full gene sequencing  Amniocytes   Chorionic Villi PHKG2: 81405  PHKG2 full gene sequencing  Fabry disease - alpha-galactosidase (GLA) Gene  Blood 81405 - Full gene sequencing  Amniocytes 

MPSI disease - Iduronidase (IDUA)  Blood 81405 - Full gene sequencing  Amniocytes 

 GSD PANEL sequencing (25 gene panel)  Single exon: 81403 (for all genes) Targeted mutation testing:  Blood Single EXON Two exons: 81404 (for all genes) Two EXONS Phone: 919-684-2698 *Please send documentation Sequencing analyses are performed by the Duke Molecular Diagnostics laboratory. Phone: 919-684-2698 Samples can be sent to the GSD Laboratory and will be forwarded.

Version date: 07/31/2017 BIOCHEMICAL GENETICS LABORATORY l GLYCOGEN STORAGE DISEASE LABORATORY DUKE UNIVERSITY HOSPITAL 801 CAPITOLA DRIVE SUITE 6 DURHAM NC 27713 PHONE: (919) 549-0445 l FAX: (919) 549-0709 l http://pediatrics.duke.edu/labservices

PATIENT INFORMATION FORM

PATIENT NAME: ______PATIENT DOB: ______HOSPITAL ID: ______SEX: M / F (please circle) INDICATION FOR TESTING: ______

CLINICAL INFORMATION: Circle all that apply

I. GENERAL PHYSICAL ABNORMALITIES VII. HEMATOLOGICAL ABNORMALITIES 1 length cm 1 anemia 2 weight kg 2 neutropenia 3 headcir cm 3 thrombopenia 4 hepatomegaly 4 thrombo-embolic abnormalities 5 splenomegaly 5 bleeding tendency 6 cardiomegaly 7 skin xanthoma VIII. LABORATORY ABNORMALITIES 8 strange smell 1 acidosis 2 hypoglycemia II. NEUROMUSCULAR ABNORMALITIES 3 abnormal liver function 1 mental retardation 4 ketosis 2 muscle weakness 5 hyperammonemia 3 exercise intolerance 6 hyperlipidemia 4 muscle cramping 7 hyperuricemia 5 muscle wasting 8 hyperlactic acidemia 6 hypertonia 9 high CPK 7 hypotonia 10 8 convulsions 9 lethargy/coma IX. BIOPSY - Glycogen Membrane Bound Dispersed III. GASTROINTESTINAL ABNORMALITIES 1 liver 1 vomiting 2 muscle 2 diarrhea X. GENETICS IV. NEPHROLOGICAL ABNORMALITIES 1 consanguinity 1 creatine clearance 2 metabolic disease in family 2 proteinuria 3 pedigree if applicable 3 strange color/smell 4 race 4 White Black Hispanic Asian V. X-RAY ABNORMALITIES 1 delayed bone-age XI. MEDICATIONS: 2

VI. IMMUNOLOGICAL ABNORMALITIES 1 recurrent infections XII. DIAGNOSIS: 2

RESULTS ADDRESS: *BILLING ADDRESS: Physician: Attn: Address: Address:

TEL: FAX: TEL: FAX:

*We do not bill patients or their insurance companies. You are responsible for charges incurred by tests ordered.

Version date: 07/31/2017