ACHONDROPLASIA ALBRIGHT HEREDITARY OSTEODYSTROPHY (GNAS1) AMYOTROPHIC LATERAL SCLEROSIS (ALS) ANDROGEN INSENSITIVITY SYNDROME ANGELMAN SYNDROME, METHYLATION SUDIES APERT SYNDROME - FGFR2 EXON 8 BLAU SYNDROME (NOD2/CARD15 COMPLETE GENE) BRAF - MELANOMA BRAF -THYROID CANCER BRAF CODON 600 - COLON CANCER CONGENITAL ADRENAL HYPERPLASIA (CAH) CONNEXIN 26 CONNEXIN 30 CONNEXIN HEARING LOSS PANEL CRANIODYSMORPHOLOGY PANEL CRANIODYSMORPHOLOGY SCREEN CROHN DISEASE - NOD2 SUSCEPTIBILITY MUTATIONS CROHN DISEASE - NOD2/CARD15 COMPLETE GENE ANALYSIS CROUZON AND PFEIFFER SYNDROME - CRANIODYSMORPHOLOGY TESTING CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS CYSTIC FIBROSIS DRPLA - DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY DWARFISM PANEL (FGFR 3) EPIDERMAL GROWTH FACTOR RECEPTOR - EGFR FACTOR V LEIDEN FGFR2 - COMPLETE ANALYSIS FGFR2 - GENE ANALYSIS REFLEXED FROM CRANIODYSMORPHOLOGY SCREEN FRAGILE X - RELATED DISORDERS FRIEDREICHS ATAXIA (FRDA) FRONTOTEMPORAL DEMENTIA (FTD) - PGRN GENE FRONTOTEMPORAL DEMENTIA (FTDP) - MAPT GENE, EXON 10 ONLY FRONTOTEMPORAL DEMENTIA W/ PARKINSONISM (FTDP) - MAPT GENE HEPATITIS B QUANTITATION BY PCR HEPATITIS C GENOTYPING BY PCR HEPATITIS C QUANTITATION BY PCR HUNTINGTON DISEASE HYPOCHONDROPLASIA JAK2 (V617F) KRAS (CODONS 12 & 13) LI-FRAUMENI SYNDROME (P53) MARFAN SYNDROME - FBN1 GENE MARFAN SYNDROME, TYPE 2 - TGFBR1 GENE MARFAN SYNDROME, TYPE 2 - TGFBR2 GENE MARFAN SYNDROME, TYPE 2 PANEL (TGFBR1 & TGFBR2 GENES) MATERNAL CELL CONTAMINATION (MCC) STUDIES MCCUNE ALBRIGHT SYNDROME MITOCHONDRIAL HEARING LOSS - MUTATION mt A1555G MITOCHONDRIAL HEARING LOSS MTTS1 GENE MITOCHONDRIAL HEARING LOSS PANEL - m. 1555A>G and MT-TS1 MTHFR (METHYLENETETRAHYDROFOLATE REDUCTASE) MUENKE SYNDROME - FGFR3 GENE (PRO250ARG) MYOTONIC DYSTROPHY - DMPK GENE NEUROLOGICAL PANEL NEWBORN HYPOTONIA PANEL (DM1, PWS AND SMA) NONSYNDROMIC HEARING LOSS PANEL PENDRED SYNDROME POLYCYSTIC KIDNEY DISEASE, TYPE 1 (LINKAGE) POLYCYSTIC KIDNEY DISEASE, TYPE 2 (LINKAGE) PRADER-WILLI SYNDROME, METHYLATION ANALYSIS PROTHROMBIN SAETHRE-CHOTZEN SYNDROME - TWIST GENE ANALYSIS SPINAL MUSCULAR ATROPHY - I, II AND III SPINOCEREBELLAR ATAXIA PANEL SPINOCEREBELLAR ATAXIA 1 (SCA1) SPINOCEREBELLAR ATAXIA 2 (SCA2) SPINOCEREBELLAR ATAXIA 3 (SCA3) SPINOCEREBELLAR ATAXIA 6 (SCA6) SPINOCEREBELLAR ATAXIA 7 (SCA7) WAARDENBURG SYNDROME PANEL - PAX3 AND MITF GENES WAARDENBURG SYNDROME, TYPE 1 AND 3 - PAX 3 GENE WAARDENBURG SYNDROME, TYPE 2 - MITF GENE |
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