Number of Panel Genes: 
10

The distal arthrogryposes (DA) are a group of disorders that mainly involve the distal parts of the limbs. They are characterized by non-progressive congenital contractures of the upper and lower limbs not due to a primary neurologic or muscle disease. Other common findings include camptodactyly, clubfoot, facial dysmorphism, epicanthal folds, strabismus, ptosis, short stature and scoliosis. DA9, which is caused by mutations in the FBN2, is characterized by marfanoid phenotype.read more

Tests Available

10 Panel Genes: ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
Next Generation Sequencing
$1,220
Test Code: 5133
Deletion / Duplication
$990
Test Code: 5134
NGS/Del Dup Comprehensive
$1,595
Test Code: 5135

Test Details

Technical Information
Panel Genes: 
ECEL1, FBN2, MYBPC1, MYH3, MYH8, NALCN, PIEZO2, TNNI2, TNNT3, TPM2
Disease Groups: 
Skeletal Dysplasias
MIM: 
615065
121050
614335
193700
601680
158300
114300
108145
108120
616266
Billing
Price: 
$1,220
CPT Codes: 
81479 x 10
Ordering
SKU:
5133
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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