Lab Dept:

Anatomic Pathology

Test Name:


General Information

Lab Order Codes:

JAGK (Blood), JAGKB (Saliva)


Cholestasis with Perpheral Pulmonary Stenosis; Arteriohepatic Dysplasia; Syndromatic Hepatic Ductular Hypoplasia; JAG1

CPT Codes:

81403 – Molecular pathology procedure, Level 4

Test Includes:

JAG1 specific mutation testing in situations such as prenatal diagnosis, carrier testing and presymptomatic testing on family members at risk for the mutation. There must be a confirmed mutation analysis on an individual to proceed with this testing. Note: Saliva specimens cannot be accepted for HDT array tests.


Test Indications:

Once a mutation is confirmed in an affected individual, prenatal diagnosis, carrier testing, and presymptomatic testing can be performed on family members who are at risk for the mutation. In some cases, particularly those with time constraints such as prenatal diagnosis, mutation confirmation in an affected family member can run concurrently with other samples from the same family.

Reasons for referral:
1. Clinical laboratory confirmation of clinical diagnosis. 2. Development of appropriate evaluation and management plan.
3. Evaluation of family members as possible donors for liver transplantation.
4. Identification of mutation carriers with milder manifestations.
5. Genetic counseling

Lab Testing Sections:

Anatomic Pathology - Sendouts

Referred to:

CTGT – One Known Mutation

Phone Numbers:

MIN Lab: 612-813-6280

STP Lab: 651-220-6550

Test Availability:

Daily, 24 hours (Preferred draws are Sunday - Thursday as specimens can only be received at the reference lab Monday - Friday. Specimens collected Friday or Saturday will be held for shipment on Monday.)

Turnaround Time:

2 – 3 weeks

Special Instructions:

A CTGT signed request form must be sent with any patient or specimen to the laboratory. DNA can be prepared using saliva. Only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted. Kits are available through: DNA Genotek ( or by phone (1-866-813-6354).


Specimen Type:

Whole blood

Note: Saliva specimens cannot be accepted for HDT array testing.


Blood: Lavender top (EDTA) tube

Saliva collected using an Oragene Saliva Collection kit.

Draw Volume:

3 - 5 mL blood

Saliva: follow kit instructions

Processed Volume:

Same as Draw Volume


Blood: Routine venipuncture
Saliva: Follow kit instructions

Special Processing:

Lab Staff: Send whole blood in original collection container or saliva collection kit, including signed consent form and requisition, with a cool pack during warm temperatures, via overnight or second-day courier so that the sample will arrive at CTGT on a weekday (Monday through Friday). Samples drawn on Friday or Saturday should be held at refrigerated temperatures for shipment on Sunday. Samples can be held at refrigerated temperatures for up to 7 days. Do not freeze.

Patient Preparation:

Blood: None
Saliva: Follow kit instructions

Sample Rejection:

Unrefrigerated specimens older than 48 hours for blood; frozen specimens; mislabeled or unlabeled specimens


Reference Range:

No mutations detected

Critical Values:





Sanger Sequencing: Direct DNA sequencing of PCR products generated from genomic DNA


CTGT November 2012
(484) 244-2900 Fax (484) 244-2904


1/12/2011: CPT Updates
11/6/2012: Moved from GeneDx to CTGT.