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
$990
Test Code: 1007
Deletion / Duplication
$680
Test Code: 1756
NGS/Del Dup Comprehensive
$1,570
Test Code: 1757
Sanger Sequencing
Option 1: Exons 3, 5, 7, 9, 10, 13 and 15 only
$725
Test Code: 1008
Sanger Sequencing
Option 2: Reflex to remaining exons
$843
Test Code: 1009

Related Panels
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990
Craniosynostosis NGS panel (25 genes)
NGS $1,800
Del Dup $1,300
Comp $2,950
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,390
Del Dup $990
Comp $2,230

Test Details

Technical Information
Genes: 
FGFR3
Disease Groups: 
Skeletal Dysplasias
MIM: 
100800
146000
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1007
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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