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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Maple Syrup Urine Disease Type 3 tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis DLD Deletion/Duplication Analysis
Test Code: 3463
Sequence & Deletion/Duplication Analysis DLD Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3464
Sequence Analysis DLD Sequence Analysis
Test Code: 3460
DLD Sequence Analysis
Test Code: 3461

This test can only be performed if there is a previously identified familial mutation.


DLD Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)
Test Details
Test Code: 3461
Test Includes: Sequencing of the region(s) containing the familial alteration(s)


Special Notes: This test can only be performed if there is a previously identified familial mutation. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient and the tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions
Gene Name: DLD
Protein Name: Dihydrolipoyl dehydrogenase
Test Type: Sequence 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.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 0 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81403x1


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