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