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
Test Code: 2262
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Deletion / Duplication
Test Code: 2263
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NGS/Del Dup Comprehensive
Test Code: 2264
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Test Details
Technical Information
Panel Genes:
ATP8B1, ABCB11, ABCB4, TJP2
Disease Groups:
Liver Disorders
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2262 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- 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.