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FISH, Prader-Willi/Angelman Syndrome
Test Code14605
CPT Codes
88271, 88273
Physician Attestation of Informed Consent
This germline genetic test requires physician attestation that patient consent has been received if ordering medical facility is located in AK, DE, FL, GA, IA, MA, MN, NV, NJ, NY, OR, SD or VT or test is performed in MA.
Preferred Specimen
5 mL whole blood collected in a sodium heparin (green-top) tube
Minimum Volume
1 mL
Other Acceptable Specimens
Sodium heparin (royal blue-top) tube • Sodium heparin lead-free (tan-top) tube
Instructions
Clinical history and reason for referral are required with test order.
If this test is ordered without routine G-band chromosome analysis, a Tissue Culture charge will be added; if results are not possible from the submitted specimen, the test order will be canceled and replaced with a Cytogenetics Communication.
If this test is ordered without routine G-band chromosome analysis, a Tissue Culture charge will be added; if results are not possible from the submitted specimen, the test order will be canceled and replaced with a Cytogenetics Communication.
Transport Temperature
Room temperature
Specimen Stability
Specimen viability decreases during transit. Send specimen to testing lab for viability determination. Do not freeze. Do not reject.
Methodology
Fluorescence in situ Hybridization (FISH)
FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by the U.S. Food and Drug Administration. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.
Setup Schedule
Set up: Mon-Sat; Report available: 14 days
Reference Range
See Laboratory Report
Clinical Significance
This test is used to detect microdeletions of chromosome 15q11-q13, associated with Prader Willi syndrome using FISH (Fluorescence in situ hybridization).
