Test Background Mutations at the nucleotide position 8296, 8344, 8356, and 8363 of the mitochondrial tRNALys gene have been found in some patients with MERRF (myoclonic epilepsy with ragged-red fibers) and sensorineural hearing loss (SNHL). Among these syndromic SNHL-causing mutations, M.8344A>G is the most common mutation found in patients with MERRF or MERRF with deafness.…
Read MoreTest Background The Claritas Clinical Exome is a first line test for a patient with complex syndromic features. It can also be the next step for a patient with complex syndromic features when no other testing has uncovered a molecular explanation for the patient’s medical issues. This test is ideal for patients who have conditions…
Read MoreTest Background Deletions in this region have variable expressivity ranging from individuals with mild to moderate intellectual disability, microcephaly, neuropsychiatric disorders, cardiac abnormalities, and cataracts to individuals who are more mildly affected or unaffected. In some cases the deletion was inherited and in others it was de novo. Duplications in this region have variable expressivity…
Read MoreTest Background PTEN Hamartoma Tumor Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba (BRR), Proteus syndrome (PS), and Proteus-like syndrome. CS is characterized by benign and malignant tumors of the breast, thyroid, and endometrium. Individuals with CS typically have macrocephaly and have an increased chance for developing breast, thyroid, and endometrial cancer. BRR is characterized by…
Read MoreTest Background Pitt-Hopkins syndrome is characterized by intellectual disability, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. This laboratory performs Sanger sequencing of the TCF4 gene. Disorder(s) Pitt-Hopkins syndrome Gene(s) TCF4 Lab Method MLPA Order this test Vital Information Test Code: C0265 Turnaround Time: 2-3 weeks CPT Code: 81405×1 Billing Important…
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Read MoreTest Background Congenital fibrosis of extraocular muscles (CFEOM) is a strabismus syndrome characterized by congenital inability to move the eye muscles, with or without ptosis (droopy eyelids). CFEOM3, caused by variants in TUBB3, has a slightly variable phenotype from the class CFEOM1. It is inherited in an autosomal dominant manner. This laboratory performs Sanger sequencing…
Read MoreTest Background The metabolism of thiopurine drugs requires the enzyme thiopurine S-methyltransferase (TPMT). Certain haplotypes (combinations of polymorphisms) within the TPMT gene are associated with decreased activity of the enzyme, which can lead to bone marrow toxicity and/or discontinuation of treatment when medication doses are not reduced accordingly. This assay is designed to identify the…
Read MoreTest Background Mutations in the excision-repair cross-complementing-6 and 8 (ERCC6 and ERCC8) genes cause Cockayne syndrome type B (CSB) and type A (CSA) respectively. CSB is more common than CSA. Approximately 75% of cases of Cockayne syndrome are due to mutations in the CSB/ERCC6 gene, and most of the remaining 25% are due to mutations…
Read MoreTest Background The sole mutation responsible for Muenke syndrome is c.749C>G/p.Pro250Arg. Features of Muenke syndrome are variable ranging from no clinically apparent abnormalities to a complex combination of findings. The main characteristic is unilateral or bilateral coronal craniosynostosis or megalencephaly without craniosynostosis. Other features may include midface hypoplasia, hypertelorism, carpal-tarsal fusion, brachydactyly, sensorineural hearing loss,…
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