Medical Genetics Test Details
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|Ashkenazic Genetic Disease Screen (with Cystic Fibrosis)|
|Test Information:||Confirmation of Diagnosis, Carrier Risk Assessment - Selected Ethnic Population|
Canavan Disease (ASPA): c.693C>A (p.Y231X), c.854A>C (p.E285A), c.914C>A (p.A305E), c.433-2A>G|
Gaucher Disease (GBA): c.1226A>G (p.N409S or N370S), c.1297G>T (p.V433L or V394L), c.1343A>T (p.D448H or D409H), c.1448T>C (p.L483P or L444P), c.1604G>A (p.R535H or R496H), c.115+1G>A (IVS2+1 G>A), c.84_85insG (84GG), c.1263del55 (p.N421fs)
Familial Dysautonomia (IKBKAP): c.2087G>A (p.R696P), c.2204+6T>C
Niemann-Pick type A (SMPD1): c.911T>C (p.L304P or p.L302P), c.996delC (p.F333fs or fsP330), c.1493G>T (p.R498L or p.R496L), c.1828_1830del (p.R610del or p.R608del)
Fanconi Anemia, Type C (FANCC): c.67delG (p.W22fs or 322delG), c.456+4A>T (IVS4+4A>T)
Bloom Syndrome (BLM): c.2207_2212del6ins7 (p.Y735fs, also known as 2281del6ins7)
Tay-Sachs (HEXA): c.805G>A (p.G269S, mild), c.1278insTATC (p.Y427fs), c.1073+1G>A, c.1421+1G>A, 7.6 kb deletion. Pseudodeficiency alleles: 1. c.793C>T (p.R247W) 2. c.745C>T (p.R249W)
Mucolipidosis IV (MCOLN1): c.406-2A>G, g.511_6943del6433
Cystic Fibrosis: Reported separately under test code (#7600), this analysis screens for 89 CFTR pathogenic mutations, including the American College of Medical Genetics (ACMG) recommended 23 mutation core panel.
Reflex testing: If the R117H mutation is detected, reflex analysis of the polythymidine variations (5T, 7T and 9T) at the intron 8 branch/acceptor site of the CFTR gene is performed at no additional charge. If the 5T variant is detected, then reflexive analysis of the adjacent polyTG tract is also performed. Please see test code (#7600) CFTR-Related Disorders Mutation Panel for more information.
For a comprehensive disorder list, please see the Ashkenazic Genetic Disease Screen (without Cystic Fibrosis) Disorder List.
The Ashkenazic Genetic Disease Screen is also offered without Cystic Fibrosis (#6944).
|Methodology:||This analysis incorporates DNA amplification by multiplex PCR, allele specific primer extension, microarray hybridization, fluorescence signal detection, and allele-specific genotyping by MALDI-TOF mass spectrometry|
|Gene Name:||ASPA, GBA, IKBKAP, SMPD1, FANC|
|Protein Name:||Aspartoacylase, Glucosylceramidase, Elongator complex protein 1, Sphingomyelin phosphodiesterase, Fanconi anemia group C protein, Bloom syndrome protein, Beta-hexosaminidase alpha chain, Mucolipidin|
|Sample & Shipping Information|
|Test Requisition:||Molecular Diagnostics|
|Requirements:||Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs).|
|Shipping Conditions:||Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.
|Turn Around Time:||21 days|
|List Price:||*For Insurance or Institutional Prices, please call.|
|CPT Codes:||81200x1, 81209x1, 81220x1, 81242x1, 81251x1, 81255x1, 81260x1, 81290x1, 81330x1|