ACHONDROPLASIA
ALBRIGHT HEREDITARY OSTEODYSTROPHY (GNAS1)
AMYOTROPHIC LATERAL SCLEROSIS (ALS)
ANDROGEN INSENSITIVITY SYNDROME
ANGELMAN SYNDROME, METHYLATION STUDIES
APERT SYNDROME - FGFR2 EXON 8
BLAU SYNDROME (NOD2/CARD15 COMPLETE GENE)
BRAF - MELANOMA
BRAF -THYROID CANCER
BRAF CODON 600 - COLON CANCER
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 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
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