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Syndromic Intellectual Disability via the PURA 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
PURA 81479 81479,81479 $990
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
8605PURA81479 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


  • Renee Bend, PhD

Clinical Features and Genetics

Clinical Features

Intellectual Disability (ID) is a heterogeneous group of neurodevelopmental disorders, characterized by congenital limitation in intellectual functioning (intelligence quotient, IQ ≤70), and adaptive behavior. It is diagnosed in ~1–3% of the population before 18 years of age (American Association of Intellectual and Developmental Disabilities, AAIDD). Mental retardation, autosomal dominant 31 (MRD31, syndromic ID) is a neurodevelopmental disorder that is primarily characterized by moderate to severe developmental delay, poor or absent speech, learning disability, early-onset feeding difficulties, significant hypotonia, seizures, encephalopathy, respiratory issues, dysmorphic facial features (including frontal bossing and epicanthal folds), and eye abnormalities (Tanaka et al. 2015). Abnormal EEGs have been documented in most of the affected individuals and many are reported with hypomyelination or myelin-maturation delay in brain-MRI; with frequent myoclonic jerks in infancy, leading to epilepsy (Lalani et al. 2014).


Mental retardation, autosomal dominant 31 (MRD31) is a neurodevelopmental disorder, associated with intellectual disability that results from heterozygous de novo pathogenic variants in PURA (Hunt et al. 2014). PURA is a single-exon gene that maps to chromosome 5q31.3 and encodes a 322 amino acid polypeptide of PURα. Purine-rich element-binding protein A (PUR-alpha, PURα) is a ubiquitously expressed, highly conserved multifunctional protein (28-kDa) and a member of the Pur-family of nucleic acid binding proteins. PURα contains an N-terminal glycine-rich region, three Pur-repeats and a C-terminal glutamine-glutamate rich domain. It acts as a regulatory protein in DNA replication, gene transcription, RNA transport and mRNA translation (Hunt et al. 2014), and thus plays an important role in development, proliferation and maturation of the neural system (Tanaka et al. 2015). To date, only de novo missense, nonsense, and frameshift pathogenic variants have been reported in the human PURA gene. There are two incidences of gross deletions (5q31.3 microdeletion syndrome) including PURA and multiple additional genes. The disease transmission pattern is consistent with autosomal dominant inheritance.

Earlier, in vivo studies have shown that Purine-rich element-binding protein A (PURα) is essential for postnatal brain development (Khalili et al. 2003). The authors have demonstrated that Pura-/- mice appear normal at birth, but develop tremors and seizures at 2 weeks, then die by 4 weeks of age. PURA is the leading candidate gene responsible for the developmental phenotype of the 5q31.3 microdeletion syndrome, and the clinical features of MRD31 are similar to it (Lalani et al. 2014; Tanaka et al. 2015).

Clinical Sensitivity - Sequencing with CNV PG-Select

This test is predicted to detect pathogenic variants in <0.1% of individuals with intellectual disability (ID). In this context, it is important to note that although pathological variants over 800 genes have been identified in individuals with ID, a genetic diagnosis is still lacking in most cases due to extreme clinical and genetic heterogeneity of the condition (Vissers et al. 2016). Analytical sensitivity should be high because all pathogenic variants reported within this gene to date are detectable by sequencing.

Testing Strategy

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

Indications for Test

This test is primarily implicated for the patients with syndromic intellectual disabilities who are negative for any kind of cytogenetic abnormalities, copy number variations, Fragile-X syndrome and also for the family members of the patients who have PURA pathogenic variants. Prenatal diagnosis is possible, if the genetic diagnosis has been firmly established in an affected family member.


Official Gene Symbol OMIM ID
PURA 600473
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT


Name Inheritance OMIM ID
Mental Retardation, Autosomal Dominant 31 AD 616158


  • Hunt D. et al. 2014. Journal of Medical Genetics. 51: 806-13. PubMed ID: 25342064
  • Khalili K. et al. 2003. Molecular and Cellular Biology. 23: 6857-75. PubMed ID: 12972605
  • Lalani S.R. et al. 2014. American Journal of Human Genetics. 95: 579-83. PubMed ID: 25439098
  • Tanaka A.J. et al. 2015. Cold Spring Harbor Molecular Case Studies. 1: a000356. PubMed ID: 27148565
  • Vissers et al. 2016. Nature Reviews Genetics 17: 9-18. PubMed ID: 26503795


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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2) Select Additional Test Options

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