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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 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…
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 Order this test Vital Information Test Code: S0902 Turnaround Time: 2-3 weeks CPT Code: 81406×1 Billing Important Billing Information Forms…
Read MoreTest Background X-linked periventricular heterotopia (also called periventricular nodular heterotopia or PNH) is caused by point mutations or deletions affecting the FLNA gene with presumed loss of function. About 80% of individuals with X-linked periventricular heterotopia have a detectable mutation in the FLNA gene. Most cases of X-linked periventricular heterotopia are caused by point mutations.…
Read MoreTest Background Congenital secretory chloride diarrhea is characterized by chronic secretory diarrhea with an excess of chloride. Onset occurs prenatally causing complications such as polyhydramnios, preterm delivery, and lack of meconium at birth. Postnatal complications include dehydration, hypocholermic and hypokalemic metabolic alkalosis, and failure to thrive. If untreated, it leads to impaired renal function, nephrocalcinosis,…
Read MoreTest Background Patients with Fanconi Anemia (FA) typically have various physical abnormalities, develop bone marrow failure at some point during their lifetime, and have an increased chance of malignancy. Physical abnormalities include such features as short stature; malformations of the thumbs, forearms, skeletal system and other organs; abnormal skin pigmentation; and developmental delay. Usually bone…
Read MoreTest Background Mutations in NSD1 result in Sotos syndrome, which is characterized by typical facial features (malar flushing, sparse frontotemporal hair, high bossed forehead, downslanting palpebral fissures, a long narrow face, and prominent narrow jaw), overgrowth (height and/or head circumference greater than or equal to 2 SD above the mean), and learning disability ranging from…
Read MoreSkip 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…
Read MoreTest Background X-linked periventricular heterotopia (also called periventricular nodular heterotopia or PNH) is caused by point mutations or deletions affecting the FLNA gene with presumed loss of function. About 80% of individuals with X-linked periventricular heterotopia have a detectable mutation in the FLNA gene. Most cases of X-linked periventricular heterotopia are caused by point mutations.…
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