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HelpTest Code LAB3788 SHOX Single Gene Analysis
Clinical System Name
SHOX Single Gene Analysis
Synonyms
Short Stature Homeobox gene
SHOX Sequencing
SHOX Deletion
Langer Mesomelic Dysplasia
Leri-Weill Dyschondrosteosis
Description
Short stature is a multifactorial developmental disorder. Short stature homeobox (SHOX)-related haploinsufficiency is a genetic disorder that manifests as short stature with variable clinical severity. The SHOX-related disorders include the severe Langer Mesomelic Dysplasia (LMD; OMIM 249700) characterized by short stature with hypoplasia/aplasia; the Leri-Weill Dyschondrosteosis (LWD; OMIM 127300) characterized by disproportionate short stature with mesomelic shortening in the forearms and lower legs and bilateral Madelung deformity of the wrist; and idiopathic short stature (ISS; OMIM 300582) (Rao et al. Nat Genet 16:54-63, 1997; Shears et al. Nat Genet 19:70-73, 1998; Schiller et al. Eur J Hum Genet 8:54-62, 2000). Intrafamilial phenotypic variability has been reported with SHOX-related haploinsufficiency (Schiller et al. 2000).
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender/EDTA
Preferred Vol: 5.0 mL
Minimum Vol: 3.0 mL (1.0 mL for small infants)
Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 5 µg in TE buffer or equivalent
Minimum Vol: 2 µg in TE buffer or equivalent
Alternative Specimen (e.g. buccal/saliva):
Alternate Specimen Collection Kits for Genetic Testing
Note: Send blood promptly to Main Lab for processing.
Processing Instructions
Reject due to: Hemolyzed or clotted.
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage location: Do not spin. Affix large Epic label to tube and store in CPA refrigerator, Send Outs rack.
Off-site collection: Send whole blood refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room Temp |
3 d |
| Refrigerated | 7 d | |
| Frozen |
Unacceptable |
|
| Extracted DNA | Room Temp | 3-4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | TAT |
|---|---|
| N | 3 - 4 w |
Performing Laboratory
Blueprint Genetics
2505 3rd Ave, Suite 204
Seattle, WA 98121
Phone Number: (650) 452-9340
Department
Department: Send Outs
Phone Number: (206) 987-2563
Reference Range
Interpretive report is provided.
Methodology
Method: Next Generation Sequencing
Analytical Volume: None specified
Special Instructions
Clinical Utility
Send Out Instructions
| Reference Test Name: | SHOX Single Gene Test |
| Reference Lab Test Code: | |
| Instructions: | Send whole blood Monday through Friday to Blueprint Genetics via Delivery Express (Rush). |