DNA Test Request form 04122011 - Duke Pediatrics Intranet

BIOCHEMICAL GENETICS LABORATORY GLYCOGEN STORAGE DISEASE LABORATORYDUKE UNIVERSITY HOSPITAL 801 CAPITOLA DRIVE SUITE 6 DURHAM NC 27713PHONE: (919) 549-0445 FAX: (919) 549-0709 http://medgenetics.pediatrics.duke.edu/labservicesDNA TEST REQUEST FORM : GLYCOGEN STORAGE DISEASESPATIENT 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 Acceptable Samples COST CPT CODESGSD type 1a ( Von Gierke disease)- Glucose-6-phosphatase (G6PC) gene- Full gene sequencingGSD type 1b- Glucose-6-phosphate translocase (SLC37A4) gene- Full gene sequencingGSD II (Pompe disease, acid maltase deficiency)- Acid alpha-glucosidase (GAA) gene IVS1 (-13t >g) (Adult-onset) p.Asp645Glu (Infantile; Chinese) p.Arg854X (Infantile; African-American) Blood (WBC) Amniocytes Chorionic Villi Blood (WBC) Fibroblast Amniocytes Chorionic Villi Blood (WBC) Fibroblast Amniocytes Chorionic Villi$500.00 83890, 83891,83898 x 6, 83904 x 12,83894, 83912$600.00 83890, 83891,83898 x 8, 83904 x 16,83894, 83912$150.00 83890, 83891,83898, 83904 x 2,83894, 83912(per mutation) Full GAA gene sequencing: Performed by the Duke Molecular Diagnostics laboratoryPhone: 684-2698, http://clinlabs.duke.edu/DukeMolecular/default.aspxPlease complete “Sequencing Test Request Form” – Sample can be sent to the GSD Laboratory and will be forwarded.GSD III (Cori Disease, Forbes Disease)- Glycogen debranching enzyme (AGL) gene Exon 3 sequencing for common GSD IIIb mutations:c.16C>T (p.Gln6X) andc.18_19delGA (formerly c.17_18delAG) Blood (WBC) Amniocytes Chorionic Villi$300.00 83890, 83891,83898, 83904 x 2,83894, 83912 Full AGL gene sequencing: Performed by the Duke Molecular Diagnostics laboratoryPhone: 684-2698, http://clinlabs.duke.edu/DukeMolecular/default.aspxPlease complete “Sequencing Test Request Form” – Sample can be sent to the GSD Laboratory and will be forwarded.GSD IV (glycogen branching enzyme deficiency) Full GBE gene sequencing: Performed by the Duke Molecular Diagnostics laboratoryPhone: 684-2698, http://clinlabs.duke.edu/DukeMolecular/default.aspxPlease complete “Sequencing Test Request Form” – Sample can be sent to the GSD Laboratory and will be forwarded.GSD V (McArdles disease)- Myophosphorylase (PYGM) Gene- Exon 1, 5, and 14 sequencing:Detects mutations p.Arg50X, p.Gly205Ser, andp.Lys543Thr (formerly p.Arg49X, p.Gly204Ser,and p.Lys542Thr). Blood (WBC) Amniocytes Chorionic Villi$400.00 83890, 83891,83898 x 3, 83904 x 6,83894, 83912GSD IX (phosphorylase b kinase deficiency) Full PHKA2 and PHKG2 gene sequencing: Performed by the Duke Molecular Diagnostics laboratoryPhone: 684-2698, http://clinlabs.duke.edu/DukeMolecular/default.aspxPlease complete “Sequencing Test Request Form” – Sample can be sent to the GSD Laboratory and will be forwarded.Known familial/common mutations in the abovegenes:- Single exon sequencing:Gene:________ Mutation*:__________________ Blood (WBC) Amniocytes Chorionic VilliSingle exon:$150.00Single exon:83890, 83891,83898, 83904 x 2,83894, 83912 Two exon sequencingGene:________ Mutation 1* : _________________Mutation 2*: _________________*Please send documentationTwo exons:$300.00Two exons:83890, 83891,83898 x 2, 83904 x 4,83894, 83912Version date: 04/12/2011