NLGN3 Sequencing

Test Background Mutations in NLGN3/4 have been associated with autism spectrum disorders and mental retardation. NLGN3/4 is inherited in an X-linked manner. This laboratory performs Sanger sequencing of the NLGN3 gene. Gene(s) NLGN3 Order this test Vital Information Test Code: S0483 Turnaround Time: 3-5 weeks CPT Code: 81405×1 Billing Important Billing Information Forms and Documents…

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NF2 Deletion/Duplication

Test Background Neurofibromatosis 2 (NF2) is characterized by vestibular schwannomas causing tinnitus, hearing loss, and balance dysfunction. Schwannomas may also affect other cranial and peripheral nerves. Fewer than 15% of cases are caused by in-frame deletions. Only deletion analysis by MLPA is performed by this laboratory. Gene(s) NF2 Lab Method MLPA Order this test Vital…

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SALL4 Sequencing

Test Background SALL4-related disorders include a spectrum of phenotypes including Duane radial ray syndrome (DRRS), acro-renal-ocular syndrome (AROS), and rarely Holt-Oram syndrome. DRRS is characterized by Duane anomaly and radial ray malformations. AROS is characterized by radial ray malformations, renal abnormalities, and ocular abnormalities such as Duane anomaly. Some individuals may have sensorineural hearing loss.…

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ERCC6 Deletion/Duplication

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

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ELANE Sequencing

Skip to main content Search form Search Search Menu The Claritas Experience Tests & Ordering Complete Test Menu How to Order Order Specimen Collection Kits Sample Requirements Data Return Program What We Do Resources Clinicians Clinical Experience Orthogonal Approach Expert Network NextCODE Services Overview Clinical Resources and Services Billing and Financial Assistance Data Return Program…

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TMPRSS6 Sequencing

Test Background Patients with iron-refractory iron deficiency anemia have anemia that does not respond to oral iron therapy, but is partially responsive to parenteral iron administration. The main features include: congenital hypochromic, microcytic anemia; very low mean corpuscular erythrocyte level; low transferrin saturation; abnormal iron absorption marked by no hematological improvement following treatment with oral…

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TCF4 Sequencing

Test 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 Order this test Vital Information Test Code: S0902 Turnaround Time: 2-3 weeks CPT Code: 81406×1 Billing Important Billing Information Forms…

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Mitochondrial tRNA-Lys Mutations

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.…

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Claritas Clinical Exome- Trio

Test 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…

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1q21 Deletion/Duplication

Test 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…

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