Definition

Biallelic variants in the DHCR7 gene cause a deficiency of 7-dehydrocholesterol reductase, the enzyme that catalyzes the final step of cholesterol biosynthesis, resulting in low cholesterol and high 7-DHC levels. Prenatal/postnatal growth restriction, microcephaly, intellectual disability, cleft palate, and heart defects may occur.

Gene/region examined

DHCR7 - Exon 3, DHCR7 - Exon 4, DHCR7 - Exon 5, DHCR7 - Exon 6, DHCR7 - Exon 7, DHCR7 - Exon 8, DHCR7 - Exon 9

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Inherited, autosomal recessive.

Related Tests

Inheritance Patterns

Describes how a genetic condition is passed on within a family. There are five main patterns

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Carrier (Heterozygous / Homozygous)

Why it matters: In autosomal recessive inheritance, when each parent is a carrier (while both appear healthy), the chance of their child being born with the disease is 25% in each

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VUS (Variant of Uncertain Significance)

This is the situation where the test has detected a change in the DNA, but the role of this change in the development of disease is unconfirmed.

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How to Read a Genetic Test Result (Positive / Negative / VUS)

A genetic test result falls into three main categories

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Types of Genetic Tests

A genetic test is a type of medical test that detects changes in genes, chromosomes or proteins. Today there are more than 77,000 genetic tests available.

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