Requisition for DNA Testing: Biochemical Genetics

Family Information Patient information:

Have samples from this family been sent to a DNA lab before? Name: ______Yes No Birthdate:(YYMMDD)______

Molecular Diagnostics .Diagnostics Molecular

— If Yes, specify:______Address: ______This individual is the index case Health Card Number: ______Name of index case in the family:______Pedigree:______Date of birth:______Relationship t this patient: ______

Test Request: Reason for Referral Adenosine deaminase deficiency (ADA) Documented family history of indicated disease Arginase deficiency (ARG1) Possible family history of indicated disease

London Health Sciences Health LondonCentre Biotinidase deficiency (BTD) Symptoms of indicated disease in this individual Chondrodysplasia punctata 1 (ARSE) Other______Cystinosis (CTNS) Glutaric acidemia, type I (GCDH) Information Requested Glycogen storage disease, type IV (GBE1) Bank until further notice GTP cyclohydrolase I deficiency (GCH1) Confirm clinical diagnosis Lesch-Nyhan syndrome (HPRT1) Carrier status Metachromatic leukodystrophy (ARSA) To be referred out (specify):______Mevalonic aciduria (MVK) Other Microcephaly, Amish type (SLC25A19) Niemann Pick disease, type C1/C2 (NPC1, NPC2) Sample Collection Ornithine transcarbamylase deficiency (OTC) EDTA blood(lavender top)______cc room temp Transcobalamin II deficiency (TCN2) DNA ______ng/ul Other rare or familial mutation (specify): Fibroblast culture ______Tissue (specify):______Mitochondrial disorders: Prenatal (specify):______Whole mtDNA genome NGS including deletion Other detection and heteroplasmy analysis Point mutaitons AUTHORIZED SIGNATURE IS REQUIRED 3243A>G (MELAS) Referring Physician: __ . 3260A>G (myopathy) Signature: ______3303C>T (cardiomyopathy) 8344A>G (MERRF) Address: ______8993T>G/C (NARP/Leigh disease) Telephone: ______Fax:______Other rare or familial mutation (specify):______Billing address:______Hepatocerebral mtDNA depletion syndrome (DGUOK) Myopathic mtDNA depletion syndrome (TK2) ______Biochemical Genetics Laboratory Victoria Hospital, Room B10-217 800 Commissioners Rd. E. London, Ontario | N6A 5W9

Ph: 519-685–8500 x71560 | Fax: 519-858-1063 Rev 2019037