SHOX Deficiency Disorders, Sequencing and Deletion/Duplication
Also known as: SHOX NGS
Use
Pathogenic variants in the SHOX gene lead to a range of conditions related to SHOX gene haploinsufficiency. Patients may exhibit short stature, mesomelia, and wrist bone misalignment. Some may only experience isolated short stature (ISS), while others present additional symptoms as seen in Leri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD).
Special Instructions
Testing is not New York state approved; specimens from New York clients will be sent to a New York state-approved laboratory. Informed Consent for Genetic Testing is required for New York patients.
Limitations
A negative result does not rule out SHOX deficiency disorders. The test focuses on variants within the coding regions and intron-exon boundaries of the SHOX gene. It might not detect regulatory region variants or deep intronic variants, nor does it determine precise breakpoints for large deletions or duplications. It may fail to detect single exon deletions/duplications based on rearrangement breakpoints. Rare sequence variations, pseudogenes, and repetitive or homologous regions can also cause diagnostic errors. The test does not target low-level mosaic or somatic variants, gene conversion events, complex inversions or translocations, mtDNA variants, or repeat expansions.
Methodology
NGS
Biomarkers
LOINC Codes
- 66746-9
- 41057-1
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue; DNA.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |
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