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Test Code SALL4 UM SALL4 Sequencing

Clinical System Name

SALL4 Gene Sequence Analysis

Synonyms

SALL4

Description

Duane-radial ray syndrome (DRRS, aka Okihiro syndrome, is characterized by uni- or bilateral Duane anomaly and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication preaxial polydactyly. Acro-renal-ocular syndrome is characterized by radial ray malformations, renal abnormalities, ocular coloboma, and Duane anomaly. DRRS and AROS are allelic disorders, both caused by mutations in the SALL4 gene. Rarely, SALL4 mutations may also cause clinically typical Holt-Oram syndrome (i.e. radial ray malformations and cardiac malformations without additional features). Additional clinical features in patients with a SALL4 mutation include sensorineural and/or conductive deafness (Kohlhase GeneReviews 2008).

 

 

Sample Requirements

Specimen: Whole Blood

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

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants

 

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 15 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 2 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 2-3 w (max 30 d)

 

Performing Laboratory

PreventionGenetics 

Department

 

Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

 

Reference Range

Interpretive report is provided.

Methodology

Method: bidirectional sequencing using genomic DNA of all coding exons of the SALL4 gene plus ~20 bp of flanking non-coding DNA on each side.

Analytical Volume:

Limitations:

CPT Codes

81479            (updated 1/25/2016 by sstasi)

Special Instructions

Links to:

 

PreventionGenetics

 

Sample details, PreventionGenetics

 

Clinical Utility

SALL4 - Related Disorders

Send Out Instructions

Reference Test Name: SALL4 Sanger Sequencing
Reference Test Number: 832
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery