Achondroplasia (ACH; MIM 100800) and hypochondroplasia (HCH; MIM 146000) are autosomal dominant disorders. ACH is caused by specific mutations in FGFR3. ACH represents the most common skeletal dysplasia in humans. It is characterized by rhizomelic dwarfism, trident hands and short fingers, midface hypoplasia with macrocephaly and frontal bossing. A small foramen magnum may cause generalized hypotonia, hyperreflexia or clonus in more

Tests Available

By gene: FGFR3
Next Generation Sequencing
Test Code: 1340
Deletion / Duplication
Test Code: 1758
NGS/Del Dup Comprehensive
Test Code: 1759
Sanger Sequencing
Test Code: 1341
Exons 7, 10, 15 and 19 Only

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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