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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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HADHA Common Mutation Panel tests available.

Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis HADHA Deletion/Duplication Analysis
Test Code: 3783
Mutation Analysis HADHA Common Mutation Panel
Test Code: 3122
Sequence & Deletion/Duplication Analysis HADHA Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3124
Sequence Analysis HADHA Sequence Analysis
Test Code: 3120
HADHA Sequence Analysis
Test Code: 3121

This test can only be performed if there is a previously identified familial mutation.
HADHA Sequence Analysis
Test Code: 3123

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.

HADHA Common Mutation Panel
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s), Mutation Testing - General Population
Test Details
Test Code: 3122
Test Includes: Targeted analysis for the two common mutations: 1528G>C and 1132C>T

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#xxxx). Please see detailed requirements under this test code.
Technical Information
Methodology: DNA amplification (PCR) and an automated mini-sequencing methodology to test for the 1528G>C and 1132C>T mutations in the HADHA gene.
Gene Name: HADHA
Protein Name: Trifunctional enzyme subunit alpha, mitochondrial
Test Type: Mutation 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: 81479x1

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