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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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RECQL4 - Related Disorders tests available.

Baller-Gerold Syndrome | Rapadilino Syndrome | Rothmund-Thomson Syndrome

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis RECQL4 Sequence Analysis
Test Code: 6121
RECQL4 Sequence Analysis
Test Code: 6122

This test can only be performed if there is a previously identified familial mutation.
RECQL4 Sequence Analysis
Test Code: 6112

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.
RECQL4 Sequence Analysis
Test Code: 6122

This test can only be performed if there is a previously identified familial mutation.


RECQL4 Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6121
Test Includes: Sequencing of the entire 6.5 kb genomic region containing the RECQL4 gene. Due to the complex sequence context of this gene, only partial sequence analysis of intron 12 will be performed but includes the consensus splice site regions.


Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6122). Please see detailed requirements under this test code.

There are two GeneReviews for RECQL4 gene: Baller-Gerold Syndrome and Rothmund-Thomson Syndrome.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: RECQL4
Protein Name: ATP-dependent DNA helicase Q4
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Cancer Molecular Germline
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 ambient temperature (18-25C/64-77F) 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: 81479x1


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