For Clients

At Genzyme Genetics, test result reports are provided for doctors to help them give patients the information they need to make potentially life-changing decisions.

Our clinical experts are always available to help you with difficult cases.

Oncology

• BCR-ABL Mutation Analysis - Positive
• BCR-ABL RT PCR
• Breast Cancer Biomarker Analysis - NEW 
• Chromosome Analysis - Cytogenetic Positive
• cIg (Cytoplasmic Immunoglobulin) FISH
• EGFR FISH Analysis - NEW
• EGFR Mutation Analysis
• ERCC1 Immunohistochemistry Analysis - NEW 
• Flow Cytometry Analysis
  (therapy-related myeloid neoplasm)
• HER2 FISH Analysis - NEW 
• HER2 Immunohistochemistry Analysis - NEW 
• IgVh Mutated Analysis
• Immunohistochemistry Analysis (CUP – breast carcinoma)
• Immunohistochemistry Analysis (CUP - metastatic RCC)
• JAK2 Mutation Analysis - Positive
• Lung Cancer (NSCLC) - ERCC1 Interpretation- Positive
• Mismatch Repair Protein Analysis - NEW 
• Molar Pregnancy Analysis - NEW 
• Molecular Oncology - KRAS Mutation Analysis
• Multiple Myeloma - Positive
• UroVysion® - Fluoresence in Situ Hybridization (FISH)

Reproductive

• 44K Oligonucleotide Array CGH Analysis - Negative
• 44K Oligonucleotide Array CGH Analysis - Positive
• AFP4® - Interpretation - Screen Positive - Increased risk of Down syndrome
• AJ Carrier Testing - 11 tests
• AJ Carrier Testing - 5 tests
• Amniotic Fluid AFP and AChE - Interpretation: This amniotic fluid AFP is within expected limits
• CFTR Full Gene Sequence Analysis - Interpretation: This analysis identified two CF mutations 
• CFTR Full Gene Sequence Analysis - Interpretation: This analysis identified one CF mutation
• Chromosome Analysis - Interpretation: Cytogenetic analysis shows three copies of chromosome 21
• Chromosome Analysis - Results: Abnormal karyotype, female
• Chromosome Analysis - Specimen Type: POC - Results: 46,XY - Male karyotype
• Cystic Fibrosis Mutation Analysis - Interpretation: This individual is a carrier of CF
• Cystic Fibrosis Mutation Analysis - Interpretation: This individual’s risk to be a carrier is reduced
• FirstScreen® - Interpretation - Screen Negative
• FirstScreen® - Interpretation - Screen Positive
• FISH Analysis - Normal Subtelomere FISH results 
• FISH Analysis - Abnormal subtelomere FISH results
• Fragile X Analysis – Interpretation: Premutation - characteristic of a carrier female
• IntegratedScreen^SM - Interpretation: Screen Negative
• IntegratedScreen^SM - Interpretation: Screen Positive - Increased risk of Down syndrome
• MSAFP- Screen Negative
• SequentialScreen^SM First Trimester - Interpretation: Final result pending second trimester sample
• SequentialScreen^SM First Trimester - Interpretation: Screen Positive - Increased risk of Down syndrome
• SequentialScreen^SM Second Trimester - Interpretation: Screen Negative
• SMA Prenatal Diagnosis
• SMN1 Copy Number Analysis - Interpretation: This individual has an SMN1 copy number of two
• SMN1 Copy Number Analysis - Interpretation: This individual has one copy of SMN1

UroVysion® is a registered trademark of Abbott Laboratories.

Afp4® and FirstScreen® are registered service marks of Genzyme Corporation.

IntegratedScreen^SM and SequentialScreen^SM are service marks of Genzyme Corporation.