Medical Genetics Test Details
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Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2 tests available.
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Diagnostic Testing | Familial Mutation/Variant Analysis | Mutation Testing General Population | Prenatal Diagnosis | Presymptomatic Testing | |
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Sequence Analysis |
![]() Test Code: 5395 |
![]() Test Code: 5396 This test can only be performed if there is a previously identified familial mutation. |
![]() Test Code: 5397 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. |
HNRNPA2B1 Sequence Analysis (Familial Mutation/Variant Analysis) |
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Test Information: | Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s) | |
Test Details | ||
Test Code: | 5396 | |
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: | HNRNPA2B1 | |
Protein Name: | Heterogeneous Nuclear Ribonucleoprotein A2/B1 | |
Test Type: | Sequence 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 ambient temperature (18-25°C/64-77°F) in an insulated container by overnight courier. Do not heat or freeze. |
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Specimen Type: | Purified DNA | |
Requirements: | Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7). | |
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 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 | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81479x1 |