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

MAK-Related Retinitis Pigmentosa tests available.

(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
Sequence Analysis MAK Sequence Analysis
Test Code: 2495
MAK Sequence Analysis
Test Code: 2496

This test can only be performed if there is a previously identified familial mutation.
MAK Sequence Analysis
Test Code: 2497

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.


MAK 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: 2496
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: MAK
Protein Name: Serine/threonine-protein kinase MAK 
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Inherited Eye Disorders
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: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


Return to test index