Constitutional FISH
FISH Library - Constitutional
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Test Code:
7300
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Department:
Constitutional FISH
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Test Synonyms:
AneuVysion (chromosomes 13, 18, 21, X and Y) • Angelman Syndrome (SNRPN/D15S10) (15q11-13) • CEP X and CEP Y • Cri-du-chat (5p-) Syndrome (5p15.2) • DiGeorge Syndrome (DGS) (TUPLE1) (22q11.2) • Kallman Syndrome (KAL) (Xp22.3) • Miller-Dieker Syndrome (LIS1) (17p13.3) • Prader-Willi Syndrome (SNRPN/D15S10) (15q11-13) • SHOX-related haploinsufficiency disorders (SHOX) (Xp22.33) • Smith-Magenis Syndrome (SMS) (17p11.2) • SNRPN Dup(15) in autism • SRY-related disorders of sex development (SRY) (Yp11.3) • Steroid Sulfatase (STS) (Xp22.3) • Velocardiofacial Syndrome (VCFS) (TUPLE1) (22q11.2) • Williams Syndrome (ELN) (7q11.23) • Wolf-Hirshhorn (4p-) Syndrome (WHS) (4p16.3)
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CPT Code(s):
88271 • 88275
Background:
Knight Diagnostic Laboratories have extensive experience in validating and analyzing molecular abnormalities using fluorescent-in-situ-hybridization (FISH) techniques. For constitutional studies, a full cytogenetics karyotype is prepared from cultured cells and any abnormalities are confirmed with appropriate FISH probes to clarify the findings and for interpretation. (Note: FISH may be performed without karyotypic analysis in some cases.)
KDL genetics menu includes FISH tests on fresh or cultured cells, as well as array comparative genomic hybridization (aCGH) for postnatal evaluation of disorders such as autism, developmental delay and multiple congenital anomalies.
Methodology:
Slides are prepared per standard protocols and metaphase and/or interphase cells are scored for each probe under fluorescence microscopy.
Specimen Requirements:
Blood:
- Adult - 3-5 mL drawn into a GREEN top sodium heparin vacutainer tube or into a pre-heparinized plastic syringe (use 0.2 cc sodium heparin, 1000 unit/mL).Do NOT use lithium heparin.
- Child - 1-2 mL, as above.
- Infant - 1-2 mL, as above.
- Keep at room temperature and transport to laboratory as soon as possible.
- Contact Client Services at (855) 535-1522 for supplies and instructions.
A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES. Please include detailed clinical information, including ethnicity, clinical history, and family history.
Test Performed (Days):
Mon - Sat
Turn Around Time:
3-7 days* *TAT may be extended if part of a chromosome study
Shipment Sensitivity Requirements:
- Ship via overnight express, using the FedEx priority overnight label provided.
- Contact Client Services at (855) 535-1522 for shipping kits and instructions.
- Ship the specimen overnight express, using the FedEx priority overnight label provided.
References:
Additional Info: