Non-syndromic Autosomal Recessive Intellectual Diasbility via the TRAPPC9 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
15207 TRAPPC9 81479 81479,81479 $640 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
15207TRAPPC981479 81479 $640 Order Options and Pricing

Pricing Comments

This test is also offered via our exome backbone with CNV detection (click here). The exome-based test may be higher priced, but permits reflex to the entire exome or to any other set of clinically relevant genes.

A 25% additional charge will be applied to STAT orders. View STAT turnaround times here.

Targeted Testing

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

Turnaround Time

18 days on average

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Non-syndromic autosomal recessive intellectual disability (NS-ARID; OMIM:613192) is a clinically and genetically heterogeneous group of cognitive disorders. Mutations in the TRAPPC9 gene result in a clinically homogenous form of autosomal recessive intellectual disability. Unifying features of TRAPPC9-related NS-ARID cases are: infantile hypotonia, dysmorphic facial appearance, microcephaly, obesity, moderate to severe ID, and thin corpus callosum and reduced cortical white matter (as revealed by brain MRI) (Marangi et al. Eur J Hu Genet 21(2):229-232, 2013). Variable features included delayed speech or walking, stereotyped motions and febrile seizures.

Genetics

NS-ARID is caused by loss-of-function mutations in the TRAPPC9 gene. AR-NSID is inherited in an autosomal recessive manner. The same p.R475* mutation has been reported in three independent families of Middle Eastern descent, suggesting it may be a founder mutation (Marangi et al., 2013). TRAPPC9 encodes the TRAPPC9 protein that is highly expressed in post-mitotic neurons (Mochida et al. Am J Hu Genet 85(6):807-902, 2009). Studies in yeast show that TRAPPC9 interacts with the NFkB-inducing kinase and is believed to modulate NFkB signaling (Philippe et al. Am J Hu Genet 85(6):903-908, 2009). NFkB signaling has varied roles throughout biology, notably in maintaining synaptic plasticity and promoting neurogenesis.

Clinical Sensitivity - Sequencing with CNV PG-Select

Currently there is no estimate of the frequency of TRAPPC9 mutations in NS-ARID cases. Analytical sensitivity may be high, as reported mutations are expected to be detected by Sanger sequencing (Human Gene Mutation Database).

16% (1 of 6) of the reported TRAPPC9 causative variants are gross deletions (Human Gene Mutation Database).

Testing Strategy

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

This test provides full coverage of all coding exons of the TRAPPC9 gene, plus ~10 bases of flanking noncoding DNA. We define full coverage as >20X NGS reads or Sanger sequencing.

Indications for Test

Candidates for TRAPPC9 testing include patients with symptoms of NS-ARID in which family history is consistent with autosomal recessive inheritance. Relatives of affected individuals can also be tested to determine carrier status. This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TRAPPC9.

Gene

Official Gene Symbol OMIM ID
TRAPPC9 611966
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Disease

Name Inheritance OMIM ID
Mental Retardation, Autosomal Recessive 13 AR 613192

Citations

  • Human Gene Mutation Database (Bio-base).
  • Marangi, G. et al. (2013). PubMed ID: 22549410
  • Mochida, G.H. et al. (2009). PubMed ID: 20004763
  • Philippe, O. et al. (2009). PubMed ID: 20004764

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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