Number of Panel Genes: 
4

Mutations in the ATP8B1 gene cause two autosomal recessive disorders affecting liver: cholestasis, benign recurrent intrahepatic, 1 (BRIC1), cholestasis, progressive familial intrahepatic, 1 (PFIC1) and one autosomal dominant disorder: cholestasis, intrahepatic, of pregnancy, 1 (ICP1). BRIC2 is caused by mutations in the ABCB11 gene.read more

Tests Available

4 Panel Genes: ATP8B1, ABCB11, ABCB4, TJP2
Next Generation Sequencing
$1,240
Test Code: 2262
Deletion / Duplication
$850
Test Code: 2263
NGS/Del Dup Comprehensive
$1,990
Test Code: 2264

Test Details

Technical Information
Panel Genes: 
ATP8B1, ABCB11, ABCB4, TJP2
Disease Groups: 
Liver Disorders
Billing
Price: 
$1,240
CPT Codes: 
81479 x 4
Ordering
SKU:
2262
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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