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Houston, Texas

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Medical Genetics Test Details

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Ashkenazic Genetic Disease Screen (without Cystic Fibrosis)
Test Information: Confirmation of Diagnosis, Carrier Risk Assessment - Selected Ethnic Population
Test Details
Test Code: 6944
Test Includes: 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


Special Notes: 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 with Cystic Fibrosis (#6942).
Technical Information
Methodology: This analysis incorporates DNA amplification by multiplex PCR, allele specific primer extension, microarray hybridization, and fluorescence signal detection
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
Specimen Type: Blood
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
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81209x1, 81200x1, 81260x1, 81242x1, 81251x1, 81290x1, 81330x1, 81255x1


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