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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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FMR1 - Related Disorders tests available.

Fragile X-Associated Tremor/Ataxia Syndrome | FMR1-Related Premature Ovarian Insufficiency | Fragile X Syndrome

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
CGG Repeat Expansion Analysis FMR1 CGG Repeat Expansion Analysis
Test Code: 6573
FMR1 CGG Repeat Expansion Analysis
Test Code: 6574

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. Cultured Amniocytes ONLY.
Sequence Analysis FMR1 Sequence Analysis
Test Code: 6570

We recommend that test (#6573) for CGG repeat expansion be performed prior to gene sequencing.
FMR1 Sequence Analysis
Test Code: 6571

This test can only be performed if there is a previously identified familial mutation.
FMR1 Sequence Analysis
Test Code: 6572

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.


FMR1 CGG Repeat Expansion Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier testing
Test Details
Test Code: 6573
Special Notes: PCR analysis across the CGG repeat region of the FMR1 gene to determine allele size(s). This assay is particularly sensitive for identifying premutation alleles. Southern analysis with the pE5.1 probe identifies large expansions of the CGG repeat region, and determines methylation status using Eco RI and BssH II. Southern analysis with the px6 probe and PstI digestion can be used to detect smaller expansions.
Technical Information
Methodology: PCR; Southern analysis for samples with large expansions
Gene Name: FMR1
Protein Name: Fragile X mental retardation 1 protein
Test Type: CGG Repeat Expansion 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.

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81243x1


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