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	About Us Patient Services Outreach Physician/ Client Services Collection Info Testing Test Directory Technical Updates Employment		Laboratory Test Directory Procedure Name: Achondroplasia Ulticare Name: Achondroplasia   Testing Info: Testing Location Specimen Type Collection Container Optional Container Preferred Volume Minimum Volume Genetics Whole Blood Purple Top   3 mL 1 mL Genetics Amniotic Fluid Sterile Container   3 mL 3 mL Genetics CVS Sterile Container   2 mm   Specimen Processing: Spec. Type Optimal Volume Minimum Volume Processing Info Storage Info Sample Stability Shipping Instructions Reference Lab Setup Whole Blood 3 mL 1 mL   Ambient   Ambient   Amniotic Fluid 3 mL 3 mL   Ambient   Ambient   CVS 2 mm Tissue     Ambient   Ambient   L / CPT Codes: Lab Service Code(s)/(Qty): CPT Code(s): 0411L9168(1) 83890 9O 0411L9169(2) 83892 9O 0411L9170(2) 83894 9O 0411L9171(3) 83898 9O 0411L9172(1) 83912 9O Additional Details: Collection Instructions: Transport at room temperature. Test Availability: As needed Interpretive Info: Results detect either of 2 mutations that cause the substitution of arginine for glycine at amino acid 30. The sensitivity of the assay is greater than 99%. The most common reasons for testing are to confirm the type of dwarfism in an affected individual (2) to evaluate fetuses with unusually small stature by ultrasound for the possibility of spontaneous ACH. Notes: Achondroplasia (ACH, OMIM 100800) is the most common form of dwarfism (1 in 15,000 births). The classic features include rhizomelic dwarfism, macrocephaly, exaggerated lumbar lordosis and other skeletal abnormalities. Mortalitiy is somewhat increased in childhood and after 40. Intelligence is unaffected. More than 80% of ACH cases are spontaneous and 20% are inherited in an autosomal dominant manner. Two ACH mutations are generally embryonically lethal. Defects in the fibroblast growth factor receptor 3 (FGFR3) gene (OMIM 134934) on chromosome 4p16.3 have been discovered to cause ACH of both spontaneous and hereditary forms. A mutation at nucleotide 1138 which substitutes an arginine for glycine at position 380 of FGFR3 occurs in more than 95% of cases. For milder symptoms hypochondroplasia may be an alternative diagnosis that can also be tested by DNA analysis.

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