PHOX2A Sequencing

Test 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). It is inherited in an autosomal dominant manner. The PHOX2A gene causes congenital fibrosis of the extraocular muscles 2 (CFEOM2), which differs from CFEOM1 because defects are in…

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JAG1 Sequencing

Test Background Alagille syndrome involves multiple organ systems, but the primary features include cholestasis evidenced by bile duct paucity on liver biopsy, congenital heart defects typically involving the pulmonary arteries, posterior embryotoxon in the eye, typical facial features, and butterfly vertebrae. Expressivity is variable even within families. This condition is inherited in an autosomal dominant…

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SOS1 Sequencing

Test Background Noonan syndrome (NS) is characterized by short stature, heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with pectus carinatum or pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Mutations in the PTPN11 gene are associated with Noonan…

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FLNA Deletion/Duplication

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HAX1 Sequencing

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NSD1 Sequencing

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SYNGAP1 Sequencing

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PTEN Sequencing

Test 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…

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RAF1 Sequencing

Test Background Noonan syndrome (NS) is characterized by short stature, heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with pectus carinatum or pectus excavatum, cryptorchidism, characteristic facies, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Mutations in the PTPN11 gene are associated with Noonan…

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GALT Sequencing

Test Background Mutations in the GALT gene encoding Galactose-1-phosphate uridylyl transferase are the most common cause of galactosemia, an autosomal recessive inborn error of metabolism. The cardinal features of classic galactosemia are hepatomegaly, cataracts, and mental retardation. Failure to thrive is the most common initial clinical symptom of galactosemia. Children with galactosemia require a special…

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