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Test Code SALL1 UM SALL1 Sequencing

Clinical System Name

SALL1 Sequencing

Synonyms

Townes-Brocks Syndrome

Description

Townes-Brocks syndrome (TBS) is a genetic condition that affects several parts of the body. The most common features of this condition are an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumb. Most people with this condition have at least two of these three major features.  Other clinical features include kidney abnormalities, mild to profound hearing loss, heart defects, and genital malformations. These features vary among affected individuals, even within the same family. Intellectual disability or learning problems have also been reported in about 10 percent of people with Townes-Brocks syndrome.  SALL1 is the only gene in which mutations are known to cause TBS.

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 5 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  5,000 ng (5 µg) at concentration of 50 ng/µL

Minimum Vol:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 3 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 8-10 w

 

Performing Laboratory

GeneDx

Department

Department:  GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877

Phone Number: (301) 519-2100

Reference Range

Interpretive report is provided.

Methodology

Method: Analysis is performed by bi-directional sequencing of the coding regions (exons 1-3) and splice sites of the SALL1 gene.

Analytical Volume:

Limitations:

CPT Codes

81479x1      (updated 1/30/2015 by sstasi)

Special Instructions

Links to:

 

GeneDx

 

Send Out Instructions

Reference Test Name: SALL1 Gene Sequencing
Reference Test Number: 2521
Instructions: Ship ambient via FedEx. Keep a copy of the requisition for our records.