Laboratory Medicine

A

• Angelman Syndrome
• Ashkenazi Jewish Screening Panel
• Ataxia Telangiectasia Testing
• Atipical Hemolytic Uremic Syndrome panel A
• Atipical Hemolytic Uremic Syndrome panel B

B

• Batten Disease
• Beckwith-Wiedemann Syndrome
• Bone Marrow Transplant
• B-Cell Clonality (IGH and IGL)

C

• Charcot Marie Tooth,HNPP- Comprehensive
• Cadasil (NOTCH3)
• Chromosome Breakage Syndrome
• Chromogranin A
• Congenital Muscular Dystrophy
• Cystic Fibrosis: CFTR Deletion/Duplication Analysis
• Cystic Fibrosis: CFTR Recurrent Mutations
• Cystic Fibrosis: CFTR Sequencing

D

• DNA Banking
• Dopamine Beta-hydroxylase deficency
• Down Syndrome
• Duchenne Muscular Dystrophy

F

• First Trimester Screen
• FISH
• Fragile x Syndrome
• Factor V Leiden

H

• Harmony Prenatal Screen
• Hemochromatosis
• Hemophilia A
• Hemophila B
• Hereditary Hemorrhagic Telangiectasia
• Hereditary Sensory Neuropathy (HSN1)
• Hunter Disease
• Huntington Disease

I

• IGHV Hypermutation Analysis

J

• Jak2 Mutation (Jak2 V617F)

K

• Karyotyping

M

• Maternal Serum Screen
• Membranoproliferative Glomerulonephritis
• Microarray (Confirmation Microarray)
• Genomic Microarray Analysis (POSTNATAL Genomic SNP Microarray, Initial Microarray Workup)
• Maternal Cell Contamination
• Multiple Endocrine Neoplasia Type 2 (RET, FMTC)
• Multiple Endocrine Neoplasia Type 1 (MEN1)

O

• Oculopharyngeal Muscular Dystrophy

P

• Prothrombin Mutation G20210A
• Primary Immunodeficiency Sequence

R

• Russel Silver Syndrome
• RETT Syndrome (MECP2)

S

• Schwachman-Diamond Syndrome
• Skeletal Dysplasias: Achondroplasia
• Skeletal Dysplasias: Hypochondrodysplasia
• Skeletal Dysplasias: Thanatophoric Dysplasia
• Spinal Bulbar Muscular Atrophy (SBMA)
• Spinocerebellar Ataxia (SCA) Panel

T

• Tay-Sachs Carrier Screening
• Trisomy 13
• Trisomy 18