Available Molecular Genetics Tests


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

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