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Congenital Bile Acid Synthesis Defect Type 1 via the HSD3B7 Gene

Summary and Pricing

Test Method

Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
HSD3B7 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15249HSD3B781479 81479,81479 $990 Order Options and Pricing

Pricing Comments

Testing run on PG-select capture probes includes CNV analysis for the gene(s) on the panel but does not permit the optional add on of exome-wide CNV analysis. Any of the NGS platforms allow reflex to other clinically relevant genes, up to whole exome or whole genome sequencing depending upon the base platform selected for the initial test.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

This test is also offered via a custom panel (click here) on our exome or genome backbone which permits the optional add on of exome-wide CNV or genome-wide SV analysis.

Turnaround Time

3 weeks on average for standard orders or 2 weeks on average for STAT orders.

Please note: Once the testing process begins, an Estimated Report Date (ERD) range will be displayed in the portal. This is the most accurate prediction of when your report will be complete and may differ from the average TAT published on our website. About 85% of our tests will be reported within or before the ERD range. We will notify you of significant delays or holds which will impact the ERD. Learn more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.


Genetic Counselors


  • Chansonette Badduke, PhD

Clinical Features and Genetics

Clinical Features

Congenital bile acid synthesis defect type 1 (CBAS1) is a progressive liver disease of neonatal onset characterized by cholestasis (Schwarz et al. 2000; Cheng et al. 2003). Due to impaired bile acid synthesis, within the first weeks of life, affected infants start to present malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract. Clinical features include failure to thrive, jaundice, steatorrhea, hepatomegaly, cirrhosis, rickets and splenomegaly.


Recessive HSD3B7 pathogenic variants cause congenital bile acid synthesis defect type 1 (Cheng et al. 2003; Mizuochi et al. 2010). The HSD3B7 gene (7 coding exons) encodes 3 beta-hydroxysteroid dehydrogenase type 7, which is an enzyme in the production process of bile acids. Genetic defects of HSD3B7 found to date include missense, nonsense, splicing mutations, and small indels (Human Gene Mutation Database). No large deletions and duplications have been reported.

Clinical Sensitivity - Sequencing with CNV PG-Select

Recessive HSD3B7 pathogenic variants were identified in all 13 families that were previously diagnosed by mass spectrometric analyses (Cheng et al. 2003). Therefore, mutation detection rate is expected to be high if patients are strongly indicated clinically and biochemically.

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This test provides full coverage of all coding exons of the HSD3B7 gene plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for this test are patients with congenital bile acid synthesis defect type 1. Testing is also indicated for family members of patients who have known HSD3B7 mutations. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in HSD3B7.


Official Gene Symbol OMIM ID
HSD3B7 607764
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Bile Acid Synthesis Defect, Congenital, 1 AR 607765


  • Cheng J.B. et al. 2003. The Journal of Clinical Endocrinology and Metabolism. 88: 1833-41. PubMed ID: 12679481
  • Human Gene Mutation Database (Bio-base).
  • Mizuochi T. et al. 2010. Pediatric Research. 68: 258-63. PubMed ID: 20531254
  • Schwarz M. et al. 2000. The Journal of Clinical Investigation. 106: 1175-84. PubMed ID: 11067870


Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.
  • PGnome sequencing panels can be ordered via the myPrevent portal only at this time.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page

If ordering a Duo or Trio test, the proband and all comparator samples are required to initiate testing. If we do not receive all required samples for the test ordered within 21 days, we will convert the order to the most effective testing strategy with the samples available. Prior authorization and/or billing in place may be impacted by a change in test code.

Specimen Types

Specimen Requirements and Shipping Details

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View Ordering Instructions

1) Select Test Method (Platform)

1) Select Test Type

2) Select Additional Test Options

No Additional Test Options are available for this test.

Note: acceptable specimen types are whole blood and DNA from whole blood only.
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