Ordering Recommendation

Use to detect pathogenic variants in the SHOX gene causative of SHOX deficiency disorders (eg, isolated short stature [ISS], Leri-Weill dyschondrosteosis [LWD], and Langer mesomelic dysplasia [LMD]).

Mnemonic

SHOX NGS

Methodology

Massively Parallel Sequencing/Multiplex Ligation-dependent Probe Amplification

Performed

Varies

Reported

3-6 weeks

New York DOH Approval Status

Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.

Specimen Required

Patient Preparation
Collect

Lavender or pink (EDTA) or yellow (ACD solution A or B).
New York State Clients: Transport 8 mL whole blood (Min. 6 mL)

Specimen Preparation

Transport 3 mL whole blood. (Min: 2 mL)

Storage/Transport Temperature

Refrigerated

Unacceptable Conditions

Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.

Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

Refer to report

Compliance Category

Laboratory Developed Test (LDT)

Note

Gene Tested: SHOX (NM_000451), exon 6b (NM_006883) is not sequenced.

Hotline History

N/A

CPT Codes

81405; 81479

Components

Component Test Code* Component Chart Name LOINC
3004604 SHOX Specimen 66746-9
3004605 SHOX Interp 41057-1
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.

Aliases

  • isolated short stature
  • Langer mesomelic dysplasia (LMD)
  • Leri-Weill dyschondrosteosis (LWD)
SHOX Deficiency Disorders, Sequencing and Deletion/Duplication