Dwarfism Panel

Last Modified: 6/11/2015 6:33:35 AM


Client Notes: Contact the Laboratory at 266-1500 (Option 1) for Payment Requirements of this test

*Send copy of insurance cards and proper paperwork with specimen to Parkview Health Laboratories

Blank St. Francis Requisition 

Pre-Authorization is required for this testing.
Specimen Requirements: Two (2) 3.0 mL to 5.0 mL Whole Blood in a Lavender Top Tubes - EDTA
Minimum Volume: 3.0 mL Whole Blood EDTA
Transport & Storage: Temperature/Stability: 48 to 72 hours Ambient
Reference Range: Refer to Interpretive Results
Test Comments:

PCR amplification of the region including the G380R mutation, followed by mutation specific restriction enzyme digestion; 99% detection of the G380R mutation.  Detection of a N540K mutation by PCR amplification followed by DNA sequencing or mutation specific restriction enzyme digestion

Methodology: PCR amplification followed by DNA sequencing or mutation specific restriction enzyme digestion
Clinical Significance:

To confirm the nature of the dwarfism in an affected individual. To evaluate fetuses with unusually small stature by ultrasound for the possibility of spontaneous ACH. Individuals at risk who wish prenatal diagnosis. For ambiguous patients this test may be ordered as part of a Dwarfism Panel.

Documentation:

Achondroplasia (ACH) and Hypochondroplasia (HCH) are closely related disorders that reflect a spectrum of change with achondroplasia being the more severe (for fuller descriptions look under the individual tests listing). The classic features include rhizomelic shortening, megalocephaly, lumbar lordosis and other skeletal abnormalities.  Intelligence is unaffected. The symptoms for the two disorders can often overlap. Most cases are spontaneous; however, the remainder are inherited in an autosomal dominant manner.  In the inherited form, the disease is considered fully penetrant. Defects in the fibroblast growth factor receptor 3 (FGFR3) gene (chromosome 4p) have recently been discovered to cause greater than 99% of ACH and 60-70% of HCH of both spontaneous and hereditary types. In order to most efficiently and economically diagnose these patients the Dwarfism Panel combines the individual tests for ACH and HCH into a panel that can be ordered as a separate test.

Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 14 to 21 days
Days Performed: Monday, Tuesday, Wednesday, Thursday, Friday
Other Testing Facility: Saint Francis
PHL Test Code: MSOT
EPIC Test Code:
Alternate Test Names: ACH & HCH; Dwarfism Panel 3; FGFR 3
Included Tests: Achondroplasia (ACH); Hypochondroplasia (HCH)
CPT Coding: 83890, 83892, 83894, 83898, 83904, 83912

Go back to the top of the page.