Apert Syndrome (FGFR2)
Ataxia- Neurological Panel
Ataxia- SCA Panel
Beckwith-Weidemann Syndrome
Breast Cancer- p53 Tumor Suppressor Gene
Clotting Disorder Panel (Factor V, Prothrombin, & MTHFR)
Congenital Adrenal Hyperplasia (21-hydroxylase deficiency)
Connexin 26
Connexin 30
Connexin Hearing Loss Panel
Craniofacial-Deafness-Hand Syndrome (CDHS)
Craniosynostosis Panel (FGFR1,2,3, & TWIST)
Craniosynostosis Syndromes (FGFR1, 2, & 3)
Craniosynostosis with Acanthosis Nigricans
Crohn's Disease (NOD2/CARD15)
Crouzon Syndrome (FGFR2)
Cystic Fibrosis
DFNB4
DRPLA (Dentatorubal-Pallidoluysian Atrophy)
Dwarfism Panel (Achondroplasia & Hypochondroplasia)
Dystonia I (Torsion Dystonia)
EGFR Gene Analysis
Enlarged Vestibular Aqueduct Syndrome
Factor V Leiden
Familial Adenomatous Polyposis (Linkage)
FGFR1 (mild Pfeiffer syndrome)
FGFR2 (Craniosynostosis syndromes)
FGFR3 (Nonsyndromic Craniosynostosis)
FGFR3 (Dwarfism)
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Fragile X Syndrome
Friedreich Ataxia
Frontotemporal Dementia (MAPT)
GNAS1
Hereditary Hearing Loss Panel
Hereditary Hemochromatosis
Huntington Disease
Hypochondroplasia
Klein-Waardenburg Syndrome (WS-3)
Li Fraumeni Syndrome (P53 Gene)
Lou Gehrig’s Disease (familial ALS/ SOD1)
Machado-Joseph Disease (MJD/ SCA3)
Marfan Disease (Direct)
Marfan Disease (Linkage)
Maternal Cell Contamination
Maternally Inherited Hearing Loss Panel
MCAD
McCune-Albright Syndrome
MECP2 (Rett Syndrome)
MELAS
MERRF
Miller-Dieker Syndrome and Isolated Lissencephaly
MITF Gene Analysis
Mitochondrial Hearing Loss (mtA1555G)
Mitochondrial Panel (MELAS, MERRF, & NARP)
MTHFR (Methylenetetrahydrofolate reductase
Muenke Syndrome (FGFR3)
Myotonic Dystrophy
NARP and Leigh Syndrome
Newborn Hypotonia Panel
NOD2/CARD15
Non-Small Cell Lung Cancer Suceptibility to Gefitinib
P53 Tumor Suppressor Gene
PAX3 Gene Analysis
Pendred Syndrome
Pfeiffer Syndrome (FGFR1, FGFR2)
Pick Disease (MAPT)
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Polycystic Kidney Disease, types 1&2 (Linkage)
Prader-Willi Syndrome
Progressive Osseous Hyperplasia (GNAS1)
Prothrombin (FactorII)
Pseudohypoparathyroidism (GNAS1)
Reifenstein Syndrome
Rett Syndrome (MECP2)
Saethre-Chotzen Syndrome (TWIST)
SCA (Spinocerebellar Ataxia)
Sex Determination
Shpritzen syndrome- also see Velocardiofacial Syndrome
SLC26A4 Gene Analysis
Smith-Magenis Syndrome
SOD1 (Superoxide Dismutase)
Spinal and Bulbar Muscular Atrophy (Kennedy Disease)
Spinal Muscular Atrophy (SMA)
Spinocerebellar Ataxia Type 1 (SCA1)
Spinocerebellar Ataxia Type 2 (SCA2)
Spinocerebellar Ataxia Type 3 (SCA3/ MJD)
Spinocerebellar Ataxia Type 6 (SCA6)
Spinocerebellar Ataxia Type 7 (SCA7)
Superoxide Dismutase (SOD1)
Tauopathy (MAPT)
Thyroid Hormone Receptor β (THRB)
Torsion Dystonia (Dystonia1)
TWIST Gene Analysis (Saethre-Chotzen Syndrome)
Uniparental Disomy Analysis (various chromosomes)
Velocardiofacial Syndrome- also see DiGeorge Syndrome
Waardenburg Syndrome, Type 2
Waardenburg Syndrome (WS-I)
Williams Syndrome
Wolf-Hirschhorn Syndrome
X-Inactivation
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