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| # A B C D E F G H I J K L M N O P Q R S T U V W X Y Z |
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MOLECULAR GENETICS LABORATORY |
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| Procedure Name | Specimen Type | AKA |
| ANGELMAN SYNDROME | Blood | AS |
| ASHKENAZI JEWISH GENETIC SCREEN PANEL 1 | Blood | CYSTIC FIBROSIS, TAY-SACHS DISEASE, CANAVAN DISEASE, FAMILIAL DYSAUTONOMIA, FANCONI ANEMIA GROUP C |
| ASHKENAZI JEWISH GENETIC SCREEN PANEL 2 | Blood | BLOOM SYNDROME, GLYCOGEN STORAGE DISEASE, MUCOLIPIDOSIS IV, NIEMANN-PICK DISEASE |
| BCR/ABL (QUALITATIVE ANALYSIS) | Blood, Bone Marrow | BCR/ABL GENE REARRANGEMENT (QUALITATIVE) |
| BLOOM SYNDROME | Blood | BS |
| CANAVAN DISEASE | Blood | CD, ASPARTOACYLASE DEFICIENCY |
| CFTR INTRON 8 POLY (T) VARIANT | Blood | MALE INFERTILITY, CONGENITAL BILATERAL ABSENCE OF THE VAS DEFERENS |
| CYSTIC FIBROSIS | Blood | CF |
| FACTOR V LEIDEN (R506q) MUTATION | Blood | |
| FAMILIAL DYSAUTONOMIA | Blood | FD, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY |
| FANCONI ANEMIA GROUP C | Blood | FANCC |
| FMR-1 RELATED DISORDERS (FXTAS, POF) | Blood | FRAGILE X ASSOCIATED TREMOR/ATAXIA SYNDROME, FRAGILE X ASSOCIATED PREMATURE OVARIAN FAILURE |
| FRAGILE X SYNDROME | Blood | FRAXA, FRAGILE X MENTAL RETARDATION |
| GAUCHER DISEASE | Blood | GLUCOCEREBROSIDASE DEFICIENCY |
| GLYCOGEN STORAGE DISEASE TYPE 1A | Blood | GSD, GLUCOSE-6-PHOSPHATASE DEFICIENCY |
| HUNTINGTON DISEASE | Blood | HD, HUNTINGTON CHOREA |
| JAK2 MUTATION (V617F) | Blood, Bone Marrow | JANUS KINASE 2 MUTATION |
| MTHFR VARIANT (C677T) | Blood | MTHFR THERMOLABILE VARIANT |
| MUCOLIPIDOSIS IV | Blood | MLIV |
| NIEMANN-PICK DISEASE TYPE A | Blood | NPD, SPHINGOMYELINASE DEFICIENCY |
| PARENTAGE TESTING | Other | PATERNITY TESTING |
| PRADER-WILLI SYNDROME | Blood | PWS |
| PROTHROMBIN G20210A MUTATION | Blood | FACTOR II GENE MUTATION |
| RhD ANALYSIS (FETAL) | Other | |
| TAY-SACHS DISEASE (BIOCHEMICAL ANALYSIS) | Blood | TSD, HEXOSAMINIDASE A DEFICIENCY (BIOCHEMICAL ANALYSIS) |
| TAY-SACHS DISEASE (DNA ANALYSIS) | Blood | TSD, HEXOSAMINIDASE A DEFICIENCY (DNA ANALYSIS) |
| THROMBOPHILIA PANEL | Blood | FACTOR V LEIDEN, PROTHROMBIN (FACTOR II), MTHFR |