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Test ID LBOR0219 Williams Syndrome, 7q11.23 Deletion, FISH

Important Note

Note:  Send completed Sanford Medical Genetics Requisition along with specimen. 

For non-Medicare patients, a separate completed and signed Commercial Insurance Patient Waiver of Liability is required to accompany the specimen.

For patients with Blue Cross Blue Shield of North Dakota Coverage, a separate completed and signed Advance Member Notice is required to accompany the specimen.  

AKA

7q11.23 Deletion, Williams Syndrome, FISH; FISH for Williams Syndrome; Deletion 7; Elastin Williams (ELN Gene); FISH, Williams Syndrome; FISH, Williams-Beuren Syndrome; Williams Syndrome Chromosome Region (WSCR)

Specimen Type/Requirements

Dark Green top (Sodium Heparin w/out gel) - Whole Blood

 

Invert several times to mix blood.  Send whole blood specimen in original tube.

Do not aliquot.

 

Specimen Volume

 Preferred Volume     4 mL   
 Minimum Volume     2 mL   

 

Stability/Transport

 Room Temperature     48 - 72 hours     Preferred for transport   
 Refrigerated     48 - 72 hours     
 Frozen     Not Acceptable     

Note:  Samples received after 24 hours may result in compromised specimen integrity.

All specimens will be evaluated at the Sanford Medical Genetics Laboratory for test suitability.

Performed Test Frequency

Monday - Friday

Report Available

7 - 10 days

Additional Information

Method:
Fluorescence in situ hybridization (FISH) analysis was performed on metaphase cells using the CytoCell Williams-Beuren Region probe set, which consists of a probe specific to WSCR at 7q11.23 and a control probe (D7Z1) at 7p11.1-q11.1.  
Scoring Method: Manual

 

Limitations:
FISH assays are limited to the region(s) specific to the probe(s) being used.  A normal result does not rule out alterations elsewhere in the genome, small deletions or duplications within the sequence complementary to the probe, or point mutations. Metaphase FISH is not a reliable method for the detection of microduplications. This test is not a substitute for a complete karyotype analysis. This test’s sensitivity for detecting mosaicism is unknown.

Methodology

Fluorescence in situ Hybridization

Performing Lab

Sanford Medical Genetics Laboratory - Sioux Falls

CPT

88271x2, 88230 AND 88291

and one of the following: 88272 or 88273 or 88274 or 88275

and where applicable 88271x1 up to x14