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Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 via the PIGA Gene

Summary and Pricing

Test Method

Bi-Directional Sanger Sequencing
Test Code Test Copy GenesTest CPT Code Gene CPT Codes Copy CPT Codes Base Price
5761 PIGA 81479 81479 $610 Order Options and Pricing
Test Code Test Copy Genes Test CPT Code Gene CPT Codes Copy CPT Code Base Price
5761PIGA81479 81479 $610 Order Options and Pricing

Pricing Comments

CNV detection may be ordered through Test #600.

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

Turnaround Time

4 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.

EMAIL CONTACTS

Genetic Counselors

Geneticist

  • Li Fan, MD, PhD, FCCMG, FACMG

Clinical Features and Genetics

Clinical Features

Multiple congenital anomalies-hypotonia-seizures syndrome 2 is a rare neurodevelopmental disorder with onset in utero or early infancy. It may be lethal in infancy. The major features include dysmorphic features, neonatal hypotonia, myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems (Johnston et al. 2012. PubMed ID: 22305531; Kato et al. 2014. PubMed ID: 24706016; Tarailo-Graovac et al. 2015. PubMed ID: 25885527).

Females with a heterozygous pathogenic variant in PIGA are normally unaffected. Somatic pathogenic variants in PIGA are considered to be causative for paroxysmal nocturnal hemoglobinuria (Johnston et al. 2012. PubMed ID: 22305531; Belet et al. 2014. PubMed ID: 24357517).

Genetics

Multiple congenital anomalies-hypotonia-seizures syndrome 2 is inherited in an X-linked recessive manner and caused by pathogenic variants in the PIGA gene which encodes the phosphatidylinositol glycan anchor biosynthesis class A protein. This protein is one of the enzymes involved in the first step of biosynthesis of the glycosylphosphatidylinositol (GPI) anchor, a glycolipid structure embedded in the plasma membrane. PIGA pathogenic variants are one genetic cause of early onset epileptic encephalopathy. Pathogenic variants in PIGA gene include missense, nonsense, splicing, and small deletion/duplications (both frameshift and in-frame). No large deletions and duplications have been reported (Johnston et al. 2012. PubMed ID: 22305531; Kato et al. 2014. PubMed ID: 24706016; Tarailo-Graovac et al. 2015. PubMed ID: 25885527; Human Gene Mutation Database).

Clinical Sensitivity - Sanger Sequencing

Clinical sensitivity of PIGA in a large cohort of patients with Multiple congenital anomalies-hypotonia-seizures syndrome 2 relevant phenotypes is unavailable in the literature, because most of the studies are case reports. Analytical sensitivity is expected to be high because the pathogenic variants reported should be detectable by sequencing. PIGA pathogenic variants appear to be a rare cause of disease.

No large deletions and duplications have been reported involving the PIGA gene (Johnston et al. 2012. PubMed ID: 22305531; Kato et al. 2014. PubMed ID: 24706016; Tarailo-Graovac et al. 2015. PubMed ID: 25885527; Human Gene Mutation Database).

Testing Strategy

This test involves bidirectional Sanger sequencing of all coding exons and splice sites of the PIGA gene. The full coding sequence of each exon plus ~10 bp of flanking DNA on either side are sequenced. We will also sequence any single exon (Test #100) or pair of exons (Test #200) in family members of patients with known mutations or to confirm research results.

Indications for Test

PIGA sequencing is recommended for patients who are suspected to have Multiple congenital anomalies-hypotonia-seizures syndrome 2.

Gene

Official Gene Symbol OMIM ID
PIGA 311770
Inheritance Abbreviation
Autosomal Dominant AD
Autosomal Recessive AR
X-Linked XL
Mitochondrial MT

Citations

  • Belet et al. 2014. PubMed ID: 24357517
  • Human Gene Mutation Database (Biobase).
  • Johnston et al. 2012. PubMed ID: 22305531
  • Kato et al. 2014. PubMed ID: 24706016
  • Tarailo-Graovac et al. 2015. PubMed ID: 25885527

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.
  • 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


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

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View Ordering Instructions

1) Select Test Method (Platform)


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.

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