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• Alphabetical test catalog
• Cytogenetic Testing
• Maternal Serum Screening
• Molecular Genetics (DNA) Testing
• Drug Metabolizing Enzymes (Pharmagenetic) Testing
• Disease/Disorder

Disease/Disorder

Angelman Syndrome

• Angelman Syndrome Methylation
• Angelman Syndrome Microdeletion

Beckwith-Wiedemann Syndrome

Blood/Coagulation disorders

• Factor V Leiden
• Hemochromatosis
• MTHFR
• Prothrombin (Factor II)

Breast Cancer

Cri du Chat (5p15)

Developmental Delay

• Angelman Syndrome
  • Angelman Syndrome Methylation
  • Angelman Syndrome Microdeletion
• Chromosome Analysis on peripheral blood

Fragile X Syndrome

• Fragile X Syndrome/Fragile X Tremor-Ataxia Syndrome methylation
• Chromosome Analysis on peripheral blood

Prader-Willi Syndrome

• Prader-Willi Syndrome Methylation
• Prader-Willi Syndrome Microdeletion

DiGeorge/VCFS (22q11.21-11.23)

Down’s Syndrome

• Chromosome Analysis on Amniotic fluid
• Chromosome Analysis on Chorionic Villi Sample
• Chromosome Analysis on fetal tissue
• FISH
• Chromosome Analysis on peripheral blood

Drug Metabolism

• 450 CYP2C9
• P450 CYP2C19
• P450 CYP2D6
• Pharmacogenetic Consultation Services
• Warfarin Sensitivity Testing (CYP2C9 + VKORC1)

Fragile X Syndrome/Fragile X Tremor-Ataxia Syndrome

• Chromosome Analysis on peripheral blood
• Fragile X Syndrome/Fragile X Tremor-Ataxia Syndrome methylation

Growth Disorders

• Beckwith-Wiedemann Syndrome
• Silver-Russell Syndrome

Huntington Disease

Leukemia/Lymphoma

• Chromosome Analysis on Bone Marrow
• Hematopathology FISH on interphase nuclei
• BCR/ABL t(9;22)
• PML/RARA t(15;17)
• EGR 1/CSFIR 5q deletion
• D13S25/D13S319 13q deletion/monosomy 13
• CEP 12 (trisomy 12)
• CEP 8 (trisomy 8)
• CEPX/Y (donor sex (BMT))
• D20qS108 (20q deletion
• ALK t(2;5)
• TEL/AML 1 t(12;21)
• P53 17p
• N-myc 2p
• C-myc 8q
• 11q23 (rearrangements of 11q23)

Miller-Dieker (17p11.2)

Myelodysplastic Syndrome

• Chromosome Analysis on Bone Marrow

Myotonic Dystrophy

Neurological Disorders

• Fragile X Tremor-Ataxia Syndrome
  • Fragile X Syndrome/Fragile X Tremor-Ataxia Syndrome methylation
  • Chromosome Analysis on peripheral blood
• Huntington Disease

Prader-Willi Syndrome

• Prader-Willi Syndrome Methylation
• Prader-Willi  Syndrome Microdeletion

• Prenatal/fetal diagnosis
• AFP only
• Chromosome Analysis on Amniotic fluid
• Chromosome Analysis on Chorionic Villi Sample
• Chromosome Analysis on fetal tissue
• Chromosome Analysis on peripheral blood
• Maternal Cell Contamination
• Multiplex Trisomy/Sex Chromosome Screen
• Quad Screen (AFP, hCG, uE3, Inhibin A)
• Serum Integrated Screen (PAPP-A + Quad)
• Sex Determining Y (Yp11.3)
• Triple Screen (AFP, hCG, uE3)
• Uniparental Disomy Screening
• Y-Chromosome Detection
• Zygosity (twin) Studies

Retinoblastoma (13q14)

Silver-Russell Syndrome

Thrombophilia

• Factor V Leiden
• MTHFR
• Prothrombin (Factor II)

Trisomy

• Direct Interphase FISH for Aneuploidy (13, 18, 21, X, Y)
• Multiplex Trisomy/Sex Chromosome Screen

Williams (7q11.23)

Wolf-Hirschhorn (4p16)

X-chromosome Inactivation

X-Linked disorders

• Kallman Syndrome (Xp22.3)
• X-Chromosome Inactivation
• X-linked ichthyosis (Xp22.3)