skip to content »

Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
not shown on screen

Medical Genetics Test Details

View Custom Req   |    Tests in Custom Req: 0
Search Tests: (Search by disease, test name, gene name, test code, or keyword. Return to test index.)

    Browse:  # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Maple Syrup Urine Disease Type 1B (BCKDHB) tests available.

BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1 BETA POLYPEPTIDE

(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 BCKDHB Deletion/Duplication Analysis
Test Code: 2883
Sequence & Deletion/Duplication Analysis BCKDHB Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 2884
Sequence Analysis BCKDHB Sequence Analysis
Test Code: 2880
BCKDHB Sequence Analysis
Test Code: 2881

This test can only be performed if there is a previously identified familial mutation.
BCKDHB Sequence Analysis
Test Code: 2882

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.


BCKDHB Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 2880
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#2881). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: BCKDHB
Protein Name: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial precursor  
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tubes 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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81406x1


Return to test index