Definition

The leading causes of hereditary primary hyperparathyroidism include pathogenic variants in the MEN1 gene (menin protein) and the CDC73 gene (parafibromin protein). MEN1 variants lead to MEN type 1 syndrome, in which hyperplasia/adenoma of multiple parathyroid glands occurs together with pituitary and pancreatic endocrine tumors. CDC73 variants cause hyperparathyroidism-jaw tumor syndrome (HPT-JT); some parathyroid adenomas carry a risk of transforming into parathyroid carcinoma.

Gene/region examined

CDC73 - Exon 1, CASR - Exon 2, CASR - Exon 3, CASR - Exon 4, CASR - Exon 5, CASR - Exon 6, CASR - Exon 7, CASR - Exon 8, CASR - Exon 9, CASR - Exon 10, CASR - Exon 11, CASR - Exon 12, CASR - Exon 13, CASR - Exon 14, CASR - Exon 15, CASR - Exon 16, CASR - Exon 17

Method

Sequence analysis

Accepted sample types

EDTA blood, AF, CVS

Inheritance

Hereditary, autosomal dominant for both genes (a somatic second hit in the other allele is required for tumor formation).

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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