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 newborns.read more

Tests Available

By gene: FGFR3
Next Generation Sequencing
$900
Test Code: 1007
Deletion / Duplication
$900
Test Code: 1756
NGS/Del Dup Comprehensive
$1,100
Test Code: 1757
Sanger Sequencing
$725
Test Code: 1008
Exons 3, 5, 7, 9, 10, 13 and 15 only

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,300
Del Dup $990
Comp $1,500
Craniosynostosis NGS panel (26 genes)
NGS $1,300
Del Dup $990
Comp $1,500
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,100
Del Dup $990
Comp $1,300

Test Details

Technical Information
Genes: 
FGFR3
Disease Groups: 
Skeletal Dysplasias
MIM: 
100800
146000
Billing
Price: 
$900
CPT Codes: 
81479 x 1
Ordering
SKU:
1007
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: 4 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: 4 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)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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