Test Name & Code: • Test Name: Whole Exome Sequencing (WES) • Test Code: 4778 Related Diseases & Genes: -not applicable- Synonyms: -none- Test Details: • Methodology: Next Generation DNA Sequencing • Performed: Everyday • Reported: 9 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: > 5...
Test Name & Code: • Test Name: Lowe Syndrome (OCRL1 Gene) • Test Code: 4042 Related Diseases & Genes: • LOWE OCULOCEREBRORENAL SYNDROME (OMIM #: 309000) || Gene: OCRL (OMIM #: 300535) Synonyms: • “PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY” Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported: 8 weeks Specimen Details: • Specimen...
Test Name & Code: • Test Name: STARGARDT Disease • Test Code: 3953 Related Diseases & Genes: • STGD1 (OMIM #: 248200) || Gene: ABCA4 (OMIM #: 601691) • STGD3 (OMIM #: 600110) || Gene: CNGB3 (OMIM #: 605080) || Gene: ELOVL4 (OMIM #: 605512) Synonyms: • “MACULAR DEGENERATION, JUVENILE” • “FUNDUS FLAVIMACULATUS, INCLUDED; FFM,...
Test Name & Code: • Test Name: LHON Gene Analysis • Test Code: 3608 Related Diseases & Genes: • LEBER HEREDITARY OPTIC NEUROPATHY; LHON (OMIM #: 535000) Synonyms: -none- Test Details: • Methodology: RT-PCR • Reported: 3 weeks Specimen Details: • Specimen Collection: Peripheral blood • Container: Tube with EDTA • Specimen Volume/Amount: 5-10 ml...
Test Name & Code: • Test Name: MYOC gene testing • Test Code: 3562 Related Diseases & Genes: • “GLAUCOMA 1, OPEN ANGLE, A” (OMIM #: 137750) || Gene: MYOC (OMIM #: 601652) • “GLAUCOMA 1, OPEN ANGLE, L, INCLUDED” Synonyms: • “GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1” • JOAG1 • GLC1A • “GLC1L, INCLUDED”...
Test Name & Code: • Test Name: PAX6 Gene Sequence Analysis • Test Code: 3497 Related Diseases & Genes: • Aniridia (OMIM #: 106210) || Gene: PAX6 (OMIM #: 607108) • Cataract with late-onset corneal dystrophy (OMIM #: 106210) • Coloboma of optic nerve (OMIM #: 120430) • Optic nerve hypoplasia (OMIM #: 165550) Synonyms:...
Test Name & Code: • Test Name: HOXA1 Gene Sequence Analysis • Test Code: 3496 Related Diseases & Genes: • Athabaskan brainstem dysgenesis syndrome (OMIM #: 601536) || Gene: HOXA1 (OMIM #: 142955) • Bosley-Salih-Alorainy syndrome (OMIM #: 601536) Synonyms: • HOMEOBOX A1 • HOMEOBOX 1F • “Hox-1.6, MOUSE, HOMOLOG OF” • “lab, DROSOPHILA, HOMOLOG...
Test Name & Code: • Test Name: CHN1 Gene Sequence Analysis • Test Code: 3495 Related Diseases & Genes: • Duane retraction syndrome 2 (OMIM #: 604356) || Gene: Chimerin 1 (CHN1) (OMIM #: 118423) Synonyms: • N-CHIMERIN; CHN • GTPase-ACTIVATING PROTEIN • RHO GTPase-ACTIVATING PROTEIN 2 • RHOGAP2 Test Details: • Methodology: DNA Sequencing...
Test Name & Code: • Test Name: SALL4 Gene Sequence Analysis • Test Code: 3494 Related Diseases & Genes: • Duane-radial ray syndrome (OMIM #: 607323) || Gene: SALL4 (OMIM #: 607343) • IVIC syndrome (OMIM #: 147750) Synonyms: • SAL-LIKE 4 • HSAL4 Test Details: • Methodology: DNA Sequencing • Performed: Everyday • Reported:...
Test Name & Code: • Test Name: TUBB3 Gene Sequence Analysis • Test Code: 3493 Related Diseases & Genes: • “Cortical dysplasia, complex, with other brain malformations” (OMIM #: 614039) || Gene: TUBB3 (OMIM #: 602661) • “Fibrosis of extraocular muscles, congenital, 3A” (OMIM #: 600638) Synonyms: • “TUBULIN, BETA-3” • TUBB4 • “TUBULIN, BETA,...
Test Name & Code: • Test Name: MFRP Gene Sequence Analysis • Test Code: 3491 Related Diseases & Genes: • “Microphthalmia, isolated 5” (OMIM #: 611040) || Gene: MFRP (OMIM #: 606227) • Nanophthalmos 2 (OMIM #: 609549) Synonyms: • MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN Test Details: • Methodology: qRT-PCR (melting point) • Performed: Everyday • Reported:...
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