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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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MCAD Deficiency tests available.

Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | MCAD Deficiency

(Click the blue dot to view test details. Red dot = current test.)
Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis ACADM Deletion/Duplication Analysis
Test Code: 2348
Mutation Analysis MCAD Common Mutation Analysis
Test Code: 3117
Sequence & Deletion/Duplication Analysis ACADM Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3119
Sequence Analysis ACADM Sequence Analysis
Test Code: 3115
ACADM Sequence Analysis
Test Code: 3116

This test can only be performed if there is a previously identified familial mutation.
ACADM Prenatal Sequence Analysis
Test Code: 3118

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.

MCAD Common Mutation Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Risk Assessment - Positive Family History (no familial mutation known)
Test Details
Test Code: 3117
Test Includes: Target analysis for the common mutation K329E (Lys304Glu) in the ACADM gene.

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3116). Please see detailed requirements under this test code.
Technical Information
Methodology: DNA amplification (PCR) and an automated mini-sequencing methodology to test for the K329E (Lys304Glu) mutation in the ACADM gene.
Gene Name: ACADM
Protein Name: Medium-chain specific acyl-CoA dehydrogenase, 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: 81400x1

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