MOLECULAR PATHOLOGY PROCEDURE, LEVEL 5 (EG, ANALYSIS OF 2-5 EXONS BY DNA SEQUENCE ANALYSIS, MUTATION SCANNING OR DUPLICATION/DELETION VARIANTS OF 6-10 EXONS, OR CHARACTERIZATION OF A DYNAMIC MUTATION DISORDER/TRIPLET REPEAT BY SOUTHERN BLOT ANALYSIS) ACADS (ACYL-COA DEHYDROGENASE, C-2 TO C-3 SHORT CHAIN) (EG, SHORT CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY), TARGETED SEQUENCE ANALYSIS (EG, EXONS 5 AND 6) AQP2 (AQUAPORIN 2 [COLLECTING DUCT]) (EG, NEPHROGENIC DIABETES INSIPIDUS), FULL GENE SEQUENCE ARX (ARISTALESS RELATED HOMEOBOX) (EG, X-LINKED LISSENCEPHALY WITH AMBIGUOUS GENITALIA, X-LINKED INTELLECTUAL DISABILITY), FULL GENE SEQUENCE AVPR2 (ARGININE VASOPRESSIN RECEPTOR 2) (EG, NEPHROGENIC DIABETES INSIPIDUS), FULL GENE SEQUENCE BBS10 (BARDET-BIEDL SYNDROME 10) (EG, BARDET-BIEDL SYNDROME), FULL GENE SEQUENCE BTD (BIOTINIDASE) (EG, BIOTINIDASE DEFICIENCY), FULL GENE SEQUENCE C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2) (EG, MITOCHONDRIAL DNA DEPLETION SYNDROME), FULL GENE SEQUENCE CAV3 (CAVEOLIN 3) (EG, CAV3-RELATED DISTAL MYOPATHY, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1C), FULL GENE SEQUENCE CD40LG (CD40 LIGAND) (EG, X-LINKED HYPER IGM SYNDROME), FULL GENE SEQUENCE CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A) (EG, CDKN2A-RELATED CUTANEOUS MALIGNANT MELANOMA, FAMILIAL ATYPICAL MOLE-MALIGNANT MELANOMA SYNDROME), FULL GENE SEQUENCE CLRN1 (CLARIN 1) (EG, USHER SYNDROME, TYPE 3), FULL GENE SEQUENCE COX6B1 (CYTOCHROME C OXIDASE SUBUNIT VIB POLYPEPTIDE 1) (EG, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX IV DEFICIENCY), FULL GENE SEQUENCE CPT2 (CARNITINE PALMITOYLTRANSFERASE 2) (EG, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY), FULL GENE SEQUENCE CRX (CONE-ROD HOMEOBOX) (EG, CONE-ROD DYSTROPHY 2, LEBER CONGENITAL AMAUROSIS), FULL GENE SEQUENCE CYP1B1 (CYTOCHROME P450, FAMILY 1, SUBFAMILY B, POLYPEPTIDE 1) (EG, PRIMARY CONGENITAL GLAUCOMA), FULL GENE SEQUENCE EGR2 (EARLY GROWTH RESPONSE 2) (EG, CHARCOT-MARIE-TOOTH), FULL GENE SEQUENCE EMD (EMERIN) (EG, EMERY-DREIFUSS MUSCULAR DYSTROPHY), DUPLICATION/DELETION ANALYSIS EPM2A (EPILEPSY, PROGRESSIVE MYOCLONUS TYPE 2A, LAFORA DISEASE [LAFORIN]) (EG, PROGRESSIVE MYOCLONUS EPILEPSY), FULL GENE SEQUENCE FGF23 (FIBROBLAST GROWTH FACTOR 23) (EG, HYPOPHOSPHATEMIC RICKETS), FULL GENE SEQUENCE FGFR2 (FIBROBLAST GROWTH FACTOR RECEPTOR 2) (EG, CRANIOSYNOSTOSIS, APERT SYNDROME, CROUZON SYNDROME), TARGETED SEQUENCE ANALYSIS (EG, EXONS 8, 10) FGFR3 (FIBROBLAST GROWTH FACTOR RECEPTOR 3) (EG, ACHONDROPLASIA, HYPOCHONDROPLASIA), TARGETED