Achondrogenesis type IA (ACG1A; MIM 200600), also known as achondrogenesis, Houston-Harris type, is an autosomal recessive lethal skeletal dysplasia. Individuals with achondrogenesis type IA have short trunks and severe micromelia. Clinical findings include a short neck, a barrel shaped chest, flat nasal bridge, anteverted nares, and a protuberant abdomen. Hydrops fetalis is common.read more

Tests Available

By gene: TRIP11
Next Generation Sequencing
$990
Test Code: 1001
Deletion / Duplication
$680
Test Code: 1002
NGS/Del Dup Comprehensive
$1,570
Test Code: 1444

Related Panels
Skeletal dysplasia core NGS panel (10 genes)
NGS $1,390
Del Dup $990
Comp $2,230
Achondrogenesis NGS panel (3 genes)
NGS $1,100
Del Dup $800
Comp $1,800
Skeletal dysplasia core & extended NGS panel (29 genes)
NGS $1,840
Del Dup $1,300
Comp $2,990

Test Details

Technical Information
Genes: 
TRIP11
Disease Groups: 
Skeletal Dysplasias
MIM: 
200600
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1001
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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