CARRIER SCREENING
| CYP450 Panel |
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| Sequence of CYP2C9, CYP2C19, and CYP2D6 genes |
| AIRE p.Y85C |
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| Polyglandular Syndrome, Autoimmune (APS I) |
| ME Panel |
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| Middle-East Carrier Screening Panel (Wolman, HIBM, Usher, Dubin Johnson, G6PD deficiency, founder and common mutations) |
| BCHE p.D70G |
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| Pseudocholinesterase Deficiency |
| ME Panel w/ MTHFR |
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| Middle-East Carrier Screening Panel (Wolman, HIBM, Usher, Dubin Johnson, G6PD deficiency, MTHFR, founder and common mutations) |
| CYP11B2 p.R181W, p.V386A |
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| Congenital hypoaldosteronism, Corticosterone methyl oxidase II (CMO II) deficiency |
| mtDNA analysis |
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| Sequence of hypervariable regions I, II, and III. These are linked to ancestry. |
| LAL p.G87V |
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| Wolman Disease (LAL/LIPA), Iranian-Jewish founder mutation, LAL p.G87V (G66V based on Anderson, et.al. 1991). |
| GNE p.M743T |
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| Hereditary Inclusion Body Myopathy type 2 (HIBM, IBM2), Distal Myopathy with Rimmed Vacuoles (DMRV), GNE Myopathy, Middle-East founder mutation |
| MRP2 p.I1173F |
|---|
| Dubin Johnson Syndrome, DJS (MRP2/CMOAT/ABCC2), Middle-East founder mutation |
| G6PD p.S188F |
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| G6PD deficiency (G6PD) Middle-East common mutation |
| MTHFR p.A222V |
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| MTHFR thermolabile variant (MTHFR), Worldwide, MTHFR p.A222V (677C>T) |
| Oxidation Panel |
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| Oxidation Panel (SOD1, CBS, COMT, MAOA) |
| USH2A p.T80fsX28 |
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| Usher Syndrome (USH2A), Middle-East founder mutation |