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GTR Home > Tests > Comprehensive Brain Malformation Panel

Overview

Test order codeHelp: 1130

Test name

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Comprehensive Brain Malformation Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Monitoring, Mutation Confirmation, Pre-symptomatic, Risk Assessment, Screening

Condition

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How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Amniocytes
Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Peripheral (whole) blood
Product of conception (POC)
Saliva

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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The genetic causes of lissencephaly are complex LIS1 [OMIM#601545] abnormalities cause the most severe form of lissencephaly and are generally associated with a p>a gradient. LIS1 mutations are present in approximately 30% of patients with LIS1-related lissencephaly and rarely in patients with SBH. Microdeletions involving 17p13.3 are present in 100% of patients with MDS and approximately 50% of patients with lissencephaly. Intragenic deletions of one or more exons of LIS1 are present in approximately 15% of patients with LIS1-related lissencephaly. DCX [OMIM#300121] abnormalities result in severe lissencephaly or SBH in boys, but a less severe SBH in girls. DCX abnormalities are generally associated with an a>p gradient. In males, DCX mutations are present in approximately 30% with SBH and approximately 10% with lissencephaly. In females, DCX mutations are present in approximately 80% with SBH, especially those with diffuse bands or bilateral frontal only bands. Intragenic deletions of the DCX gene are present in approximately 10% of female patients with SBH in whom no mutations were identified by DCX sequencing. TUBA1A [OMIM#602529] mutations have been identified in patients with gyral malformations and are generally associated with a p>a gradient (similar to LIS1-associated lissencephaly). Of patients with cortical dysgeneses in whom DCX, LIS1, and ARX mutation analysis is normal, approximately 30-40% have mutations in the TUBA1A gene. ARX [OMIM#300382] mutations cause various phenotypes including XLAG, X-linked infantile spasms, and non-syndromic X-linked mental retardation. RELN mutations have been identified in patients with a less severe form of lissencephaly with cerebellar hypoplasia (LCH). VLDLR-associated cerebellar hypoplasia (VLDLR-CH) falls within the LCH spectrum, and is characterized by non-progressive congenital ataxia, ID, dysarthria, strabismus and seizures. These patients have mild lissencephaly as well. VLDR is part of the reelin (RELN) signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. LCH is distinguished from VLDLR-CH by more severe lissencephaly with an a>p gradient, a small and malformed hippocampus, and profound cerebellar hypoplasia with complete absence of detectable folia. Baraitser-Winter syndrome is a developmental disorder characterized by congenital ptosis, high-arched eyebrows, hypertelorism, ocular colobomata and anterior-predominant lissencephaly. Other features include postnatal short stature, microcephaly, ID, seizures and hearing loss . Mutations in both ACTB and ACTG1, which code for cytoplasmic actin, have been identified in patients with Baraitser-Winter syndrome

Citations
  • Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. - PubMed ID: 9063735

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.