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Test Code SALL4DDUM SALL4 Deletion/Duplication

Clinical System Name

SALL4 Gene Deletion/Duplication




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: 1μg purified DNA at a concentration of >100μg/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.


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



N 3-4 w (max 30 d)


Performing Laboratory




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

Phone Number:    (715) 387-0484


Reference Range

Interpretive report is provided.


Method: aCGH

Analytical Volume:


CPT Codes

81479            (updated 1/25/2016 by sstasi)

Special Instructions

Links to:




Sample details, PreventionGenetics


Clinical Utility

SALL4 - Related Disorders

Send Out Instructions

Reference Test Name: SALL4 Deletion/Duplication via aCGH
Reference Test Number: 600
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery


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