Acondroplasia Mutation Analysis

Clinical Significance

1. Prenatal diagnosis of Achondroplasia when one or both of the parents have Achondroplasia.
2. To determine if a fetus has Achondroplasia when an ultrasound shows abnormal bone structure.
3. To confirm a phenotypically diagnosed case of Achondroplasia.

Client Notes:

For fetal testing please contact Client Services at 260-266-1500 Option 1

Reference Range:

Refer to Interpretive Results

Methodology:

• Polymerase Chain Reaction (PCR) Amplification
• Single Nucleotide Primer Extension

Clinical Significance

1. Prenatal diagnosis of Achondroplasia when one or both of the parents have Achondroplasia.
2. To determine if a fetus has Achondroplasia when an ultrasound shows abnormal bone structure.
3. To confirm a phenotypically diagnosed case of Achondroplasia.

CDM

00913333

CPT Coding

81401 If amniotic fluid or chorionic villi sampling (CVS) is received, then an additional charge will be added for cell culture worj (CPT code(s)): 88235) if not already ordered.