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

COL2A1 - Related Disorders tests available.

COL2A1-Associated Stickler Syndrome | Stickler Syndrome Type I | Type II Collagenopathies

(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 COL2A1 Deletion/Duplication Analysis
Test Code: 6583
COL2A1 Deletion/Duplication Analysis
Test Code: 6583
COL2A1 Deletion/Duplication Analysis
Test Code: 6584

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.
Sequence & Deletion/Duplication Analysis COL2A1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 7521
Sequence Analysis COL2A1 Sequence Analysis
Test Code: 6580
COL2A1 Sequence Analysis
Test Code: 6581

This test can only be performed if there is a previously identified familial mutation.
COL2A1 Sequence Analysis
Test Code: 6582

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.


COL2A1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 7521
Test Includes: Sequence and Deletion/Duplication Analysis of COL2A1 gene.


Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6581).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions and Multiplex Ligation-dependent Probe Amplification (MLPA) analysis is performed to detect gross deletion and duplications
Gene Name: COL2A1
Protein Name: Collagen alpha-1(II) chain
Test Type: Sequence & Deletion/Duplication 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.

Turn Around Time: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x2


Return to test index