NBAS-Related Disorders via the NBAS Gene

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
11505 NBAS 81479 81479,81479 $890 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
11505NBAS81479 81479 $890 Order Options and Pricing

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

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

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

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Infantile liver failure syndrome is a life-threatening condition characterized by recurrent episodes of acute liver failure in infancy or early childhood. Recurrent acute liver failure (RALF) triggered by febrile infections can be caused by biallelic pathogenic variants in the NBAS gene (Haack et al. 2015. PubMed ID: 26073778). Liver function can be recovered completely with conservative management during the interval between infections. NBAS deficiency can lead to isolated RALF only or a multisystemic disorder with short stature, skeletal dysplasia, immunological abnormalities, and optic atrophy (resembling SOPH syndrome - short stature, optic nerve atrophy, and Pelger-Huet anomaly) (Staufner et al. 2016. PubMed ID: 26541327).

Genetics

Infantile liver failure syndrome is an autosomal recessive disorder caused by defects in the NBAS gene or, much less frequently, in the LARS gene (Haack et al. 2015. PubMed ID: 26073778; Staufner et al. 2016. PubMed ID: 26541327; Casey et al. 2012. PubMed ID: 22607940).

The protein encoded by the NBAS gene (52 coding exons) is considered a component of a soluble N-ethylmaleimide-sensitive factor attachment protein receptor (SNARE) complex. It is suggested to interact with partner p31, both involved in retrograde transport between endoplasmic reticulum (ER) and Golgi. Genetic defects within the NBAS gene include missense and various truncating variants (nonsense, splicing and frameshift) (Human Gene Mutation Database). Gross deletions have been also reported (Human Gene Mutation Database). Notably, most patients with hepatic phenotype have pathogenic variants within or before the sec39 domain of NBAS (amino acids 725–1376) (Staufner et al. 2016. PubMed ID: 26541327).

Clinical Sensitivity - Sequencing with CNV PGxome

Sequencing of the NBAS gene in 15 unrelated individuals with recurrent acute liver failure (RALF) or acute liver failure (ALF) revealed biallelic pathogenic variants in five families (33%) (Haack et al. 2015. PubMed ID: 26073778).

So far, only two large deletions have been reported in the NBAS gene (Staufner et al. 2016. PubMed ID: 26541327).

Testing Strategy

This test provides full coverage of all coding exons of the NBAS 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.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

Candidates for this test are patients with acute infantile liver failure, especially if triggered by fever. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in NBAS.

Gene

Official Gene Symbol OMIM ID
NBAS 608025
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Casey et al. 2012. PubMed ID: 22607940
  • Haack et al. 2015. PubMed ID: 26073778
  • Human Gene Mutation Database (Bio-base).
  • Staufner et al. 2016. PubMed ID: 26541327

Ordering/Specimens

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.

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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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