Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening

Candidates for this test are patients with X-Linked hypoparathyroidism.

This test involves amplification of patient DNA with several sets of specific PCR primers that flank the interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1. In a patient with this rearrangement allele, two separate primer sets amplify across the insertion boundary resulting in 490 bp and 331 bp products. Other control … This test involves amplification of patient DNA with several sets of specific PCR primers that flank the interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1. In a patient with this rearrangement allele, two separate primer sets amplify across the insertion boundary resulting in 490 bp and 331 bp products. Other control primers are used to detect the normal allele. Sanger sequencing of this rearrangement allele will also be done to confirm the breakpoint positions at the insertion boundary. View more

Tests performed
Entire test performed in-house

This test permits the identification of patients with normal genotypes, male patients who are hemizygous for this rearrangement allele, and heterozygous female carriers. This interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1 has been reported in only three kindreds with X-Linked hypoparathyroidism, two are related (Bowl et al. 2005. PubMed ID: … This test permits the identification of patients with normal genotypes, male patients who are hemizygous for this rearrangement allele, and heterozygous female carriers. This interstitial deletion-insertion involving chromosomes 2p25.3 and Xq27.1 has been reported in only three kindreds with X-Linked hypoparathyroidism, two are related (Bowl et al. 2005. PubMed ID: 16167084; Taylor et al. 2015. PubMed ID: 25985138). View more

Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory

Software used to interpret novel variations Help
GeneSplicer, Human Splicing Finder, MaxEntScan, Mutation Taster, NNSPLICE, PolyPhen 2, SIFT and Splice Site Finder.

Laboratory's policy on reporting novel variations Help
Sequence variants found in our patients are contributed to ClinVar. Anonymous patient sequence data will also be shared with researchers for preparation of peer-reviewed publications.