Sign in →

Test Code SHOXDD UM SHOX Gene Deletion/Duplication

Important Note

The testing strategy for SHOX deficiency typically includes starting with SHOX gene deletion/duplication analysis, followed by SHOX sequencing if deletion/duplication analysis is normal (see related test below).

Clinical System Name

SHOX gene Deletion/Duplication

Synonyms

Short Stature Homeobox gene
SHOX Deletion/Duplication

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA or Yellow/ACD

Preferred Vol: 3.0 - 5.0 mL

Minimum Vol: 1.0 mL for small infants

 

Specimen: DNA

Container(s): Sterile Plastic Tube

Preferred Vol: 5 µg of purified DNA at a concentration of at least 100 µg/ml

Minimum Vol: At least 2 µg of purified DNA at a concentration of at least 100 µg/ml.

 

Note: Send whole blood promptly to Main Lab for processing.

Processing Instructions

Reject due to: Hemolyzed or clotted.

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Do not spin. Affix large Cerner label to tube and store in CPA refrigerator, Send Outs rack.

 

Off-site collection: Do not spin. Send blood promptly to Lab.

Stability

Specimen Type Temperature Time
Whole Blood Room temp

48 h

  Refrigerated 1 w
  Frozen

Unacceptable

 

Availability

STAT Performed TAT
N  Drawn daily 20 d

 

Performing Laboratory

PreventionGenetics

3800 S. Business Park Ave.

Marshfield, WI 54449

 

Phone Number: (715) 387-0484

Department

Department: Send Outs

Phone Number: (206) 987-2563

Reference Range

Interpretive report is provided.

Methodology

Method: Array Comparative Genomic Hybridization (aCGH)

Analytical Volume: None specified

Limitations:

Special Instructions

PreventionGenetics

Send Out Instructions

Reference Test Name: Short stature Homeobox (SHOX)-related Haploinsufficiency Disorder via the SHOX gene Deletion/Duplication Testing via aCGH
Reference Test Number:

600

Instructions: Ship whole blood via FedEx Priority Overnight at ambient temperature. PreventionGenetics accepts Saturday delivery.

 

Related Tests