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Test ID FSHDH SHOX, DHPLC


Specimen Required


Specimen Type: Whole Blood

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 3 mL

Collection Instructions: Draw blood in a lavender-top (EDTA) or Yellow top (ACD) tube(s) and send 3 mL whole blood ambient.

 

Required: New York Clients-Informed consent is required. Please document on the request form or electronic order that a copy is on file. An Informed Consent for Genetic Testing is available in Special Instructions.


Forms

New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing-FSHDH

Useful For

Identifies mutations causing short stature related to SHOX deficiency. SHOX deficiency is an indication for somatotropin (Humatrope®).

Method Name

Denaturing high-pressure liquid chromatography (DHPLC)

Reporting Name

SHOX DHPLC

Specimen Type

Whole Blood EDTA

Specimen Minimum Volume

1 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole Blood EDTA Ambient (preferred) 28 days
  Refrigerated  28 days

Reference Values

An interpretive report will be provided.

Performing Laboratory

Esoterix Endocrinology

CPT Code Information

81479

LOINC Code Information

Test ID Test Order Name Order LOINC Value
FSHDH SHOX DHPLC Not Provided

 

Result ID Test Result Name Result LOINC Value
Z5908 SHOX DHPLC Not Provided
Z5909 Result 41057-1
Z5910 Interpretation 34500-9
Z5911 Comment 77202-0

NY State Approved

Yes

Day(s) Performed

Monday through Friday

Report Available

18 to 32 days