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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Myotonic Dystrophy Type 1 tests available.

Steinert's Disease

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Repeat Expansion Analysis Myotonic Dystrophy Type 1 Repeat Expansion Analysis
Test Code: 6041
Myotonic Dystrophy Type 1 Repeat Expansion Analysis
Test Code: 6105

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.

Myotonic Dystrophy Type 1 Repeat Expansion Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6041
Special Notes: The MDY1 probe from the myotonin protein kinase gene is used to identify large expansions of the CTG repeat region with Nco I or BamHI digested DNA. The PCR assay is particularly sensitive for identifying alleles between 30-80 repeats.
Technical Information
Methodology: PCR-amplification, Southern Blot with densitometry
Gene Name: DMPK
Protein Name: Myotonin-protein kinase
Test Type: Repeat Expansion Analysis
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: 81401x1

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