Medical Genetics Test Details
View Custom Req | Tests in Custom Req: 0
FMR1 - Related Disorders tests available.
Fragile X-Associated Tremor/Ataxia Syndrome | FMR1-Related Premature Ovarian Insufficiency | Fragile X Syndrome
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FMR1 CGG Repeat Expansion Analysis | ||
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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. Expansions greater than 149 repeats are reflexed to Southern analysis for confirmation of expansion and methylation status. If a saliva or buccal swab was submitted initially, a request for a blood sample will be made to perform this additional analysis. | |
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 | ||
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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. |
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Specimen Type: | Buccal Swab | |
Requirements: | Collected with ORAcollect•Dx(OCD-100) self-collection kit (provided by Baylor Genetics with instructions). It is highly recommended that the sample be collected by a healthcare professional. | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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Specimen Type: | Purified DNA | |
Requirements: | Send 10-15ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.75-2.0) | |
Shipping Conditions: | Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze. |
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Specimen Type: | Saliva | |
Requirements: | Collected with Oragene DNA Self-Collection Kit (provided by Baylor Genetics with instructions). | |
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 | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81243x1 |