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Reproductive Testing

From maternal serum screening to cystic fibrosis and Ashkenazi Jewish carrier screening to postnatal array CGH – we offer an expansive menu of testing options, so that you can provide the best care for your patients.

Genzyme has the largest network of genetic counselors in the United States: 130 board-certified/board-eligible genetic counselors, 15 board-certified medical geneticists and genetic counseling services at over 95 locations nationwide.

View the most popular Reproductive Testing pages on this site:

Tests by Disease Tests A-Z Tests by Pregnancy Week
Available Tests by Disease View All
Anencephaly
  1. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  2. Cytogenetics – Amniotic Fluid Chromosome Analysis
  3. IntegratedScreenSM
  4. SequentialScreenSM
  5. SerumIntegratedScreenSM
Angelman Syndrome
  1. Array CGH Postnatal 44k Oligonucleotide Array
  2. Cytogenetics – Amniotic Fluid Chromosome Analysis
  3. Microdeletion Analysis
  4. Prader-Willi/Angelman Syndromes Protocol – Whole Blood Methylation, Chromosomes and FISH Tests
Azoospermia
  1. Y Chromosome Microdeletion Analysis
Bloom Syndrome
  1. Ashkenazi Jewish Carrier Testing
  2. Bloom Syndrome Mutation Analysis
Canavan Disease
  1. Ashkenazi Jewish Carrier Testing
  2. Canavan Disease Mutation Analysis
Chromosome Abnormalities
  1. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  2. Array CGH Postnatal 44k Oligonucleotide Array
  3. Cytogenetics – Amniotic Fluid Chromosome Analysis
  4. Cytogenetics – Blood Chromosome Analysis
  5. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  6. Cytogenetics – Products of Conception (POC) Chromosome Analysis
  7. FirstScreen® - First Trimester Screening
  8. InSight® (Interphase FISH for Rapid Detection of Numerical Abnormalities of Chromosomes 13, 18, 21, X & Y)
  9. IntegratedScreenSM
  10. SequentialScreenSM
  11. SerumIntegratedScreenSM
Complicated Multiple Gestations
  1. Zygosity Testing
Cri-Du-Chat
  1. Microdeletion Analysis
Cystic Fibrosis
  1. CFTR Intron 8 Poly (T) Analysis
  2. Cystic Fibrosis (CF) Gene Sequencing
  3. Cystic Fibrosis Expanded Mutation Analysis – CFplus®
  4. Cytogenetics – Amniotic Fluid Chromosome Analysis
  5. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
DiGeorge/Velocardiofacial (22q11) Syndrome
  1. Microdeletion Analysis
Dihydrolipoamide Dehydrogenase Deficiency
  1. Ashkenazi Jewish Carrier Testing
  2. Dihydrolipoamide Dehydrogenase Deficiency Mutation Analysis
Down Syndrome
  1. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  2. Array CGH Postnatal 44k Oligonucleotide Array
  3. Cytogenetics – Amniotic Fluid Chromosome Analysis
  4. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  5. FirstScreen® - First Trimester Screening
  6. IntegratedScreenSM
  7. SerumIntegratedScreenSM
Fabry Disease
  1. Fabry Disease Enzyme Analysis (alpha-galactosidase-A)
  2. Fabry Disease Mutation Analysis by Sequencing
Familial Dysautonomia
  1. Ashkenazi Jewish Carrier Testing
  2. Familial Dysautonomia Mutation Analysis
Familial Hyperinsulinism
  1. Ashkenazi Jewish Carrier Testing
  2. Familial Hyperinsulinism Mutation Analysis
Fanconi Anemia
  1. Cytogenetics – Chromosome Breakage Analysis (Blood)
Fanconi Anemia Group C
  1. Ashkenazi Jewish Carrier Testing
  2. Fanconi Anemia Group C Mutation Analysis
Fragile X Syndrome
  1. Cytogenetics – Amniotic Fluid Chromosome Analysis
  2. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  3. Fragile X Syndrome Mutation Analysis
Gaucher Disease
  1. Angiotensin Converting Enzyme (ACE) Analysis
  2. Ashkenazi Jewish Carrier Testing
  3. Chitotriosidase Assay
  4. Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
  5. Gaucher Disease Mutation Analysis
  6. Tartrate Resistant Acid Phosphatase (TRAP)
Glycogen Storage Disease Type 1A
  1. Ashkenazi Jewish Carrier Testing
  2. Glycogen Storage Disease Type 1a (GSD1a) Mutation Analysis
Inherited Diseases
  1. Cytogenetics – Amniotic Fluid Chromosome Analysis
  2. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
Kallmann Syndrome
  1. Microdeletion Analysis
Maple Syrup Urine Disease
  1. Ashkenazi Jewish Carrier Testing
  2. Maple Syrup Urine Disease (MSUD) Mutation Analysis
Miller-Dieker Syndrome
  1. Microdeletion Analysis
Mucolipidosis Type IV
  1. Ashkenazi Jewish Carrier Testing
  2. Mucolipidosis Type IV (MLIV) Mutation Analysis
Nemaline Myopathy
  1. Ashkenazi Jewish Carrier Testing
  2. Nemaline Myopathy Mutation Analysis
Niemann-Pick Disease Type A
  1. Ashkenazi Jewish Carrier Testing
  2. Niemann-Pick Disease Type A Mutation Analysis
Oligospermia
  1. Y Chromosome Microdeletion Analysis
Open Neural Tube Defects
  1. Acetylcholinesterase (AChE) Testing
  2. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  3. Amniotic Fluid Alpha-Fetoprotein (AFAFP) Testing
  4. Cytogenetics – Amniotic Fluid Chromosome Analysis
  5. IntegratedScreenSM
  6. Maternal Serum Alpha-Fetoprotein (MSAFP)
  7. SequentialScreenSM
  8. SerumIntegratedScreenSM
Pompe Disease
  1. CRIM Western Analysis
  2. Pompe Disease Enzyme Test
  3. Pompe Disease Mutation Analysis (GAA) by Sequencing
Prader-Willi Syndrome (PWS)
  1. Array CGH Postnatal 44k Oligonucleotide Array
  2. Microdeletion Analysis
Rh Alloimmunization
  1. Rh c/E Mutation Analysis
  2. Rh D Mutation Analysis
Sickle Cell Disease
  1. Cytogenetics – Amniotic Fluid Chromosome Analysis
  2. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  3. Sickle Cell Anemia Mutation Analysis
Smith-Magenis Syndrome
  1. Microdeletion Analysis
Spina Bifida
  1. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  2. Cytogenetics – Amniotic Fluid Chromosome Analysis
  3. IntegratedScreenSM
  4. SequentialScreenSM
  5. SerumIntegratedScreenSM
Spinal Muscular Atrophy
  1. Cytogenetics – Amniotic Fluid Chromosome Analysis
  2. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  3. Spinal Muscular Atrophy (SMA) Carrier Testing
Steroid Sulfatase Deficiency (X-Linked Ichthyosis)
  1. Microdeletion Analysis
Tay-Sachs Disease
  1. Ashkenazi Jewish Carrier Testing
  2. Cytogenetics – Amniotic Fluid Chromosome Analysis
  3. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  4. Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A)
  5. Tay-Sachs Disease Mutation Analysis
Thrombosis
  1. Factor II (Prothrombin) G20210A Mutation Analysis
  2. Factor V Leiden Mutation Analysis
  3. MTHFR (C677T) Mutation Analysis
Trisomy 13
  1. Cytogenetics – Amniotic Fluid Chromosome Analysis
  2. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
Trisomy 18
  1. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  2. Array CGH Postnatal 44k Oligonucleotide Array
  3. Cytogenetics – Amniotic Fluid Chromosome Analysis
  4. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  5. FirstScreen® - First Trimester Screening
  6. IntegratedScreenSM
  7. SequentialScreenSM
  8. SerumIntegratedScreenSM
Usher Syndrome Type IF
  1. Ashkenazi Jewish Carrier Testing
  2. Usher Syndrome Type IF Mutation Analysis
Usher Syndrome Type III
  1. Ashkenazi Jewish Carrier Testing
  2. Usher Syndrome Type III Mutation Analysis
Williams Syndrome
  1. Microdeletion Analysis
Wolf-Hirschhorn Syndrome
  1. Microdeletion Analysis
Y Chromosome Microdeletions
  1. Y Chromosome Microdeletion Analysis
Available Tests A-Z View All
A - F
  1. Acetylcholinesterase (AChE) Testing
  2. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  3. Amniotic Fluid Alpha-Fetoprotein (AFAFP) Testing
  4. Angiotensin Converting Enzyme (ACE) Analysis
  5. Array CGH Postnatal 44k Oligonucleotide Array
  6. Ashkenazi Jewish Carrier Testing
  7. Bloom Syndrome Mutation Analysis
  8. Canavan Disease Mutation Analysis
  9. CFTR Intron 8 Poly (T) Analysis
  10. Chitotriosidase Assay
  11. CRIM Western Analysis
  12. Cystic Fibrosis (CF) Gene Sequencing
  13. Cystic Fibrosis Expanded Mutation Analysis – CFplus®
  14. Cytogenetics – Amniotic Fluid Chromosome Analysis
  15. Cytogenetics – Blood Chromosome Analysis
  16. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  17. Cytogenetics – Chromosome Breakage Analysis (Blood)
  18. Cytogenetics – Products of Conception (POC) Chromosome Analysis
  19. Dihydrolipoamide Dehydrogenase Deficiency Mutation Analysis
  20. Fabry Disease Enzyme Analysis (alpha-galactosidase-A)
  21. Fabry Disease Mutation Analysis by Sequencing
  22. Factor II (Prothrombin) G20210A Mutation Analysis
  23. Factor V Leiden Mutation Analysis
  24. Familial Dysautonomia Mutation Analysis
  25. Familial Hyperinsulinism Mutation Analysis
  26. Fanconi Anemia Group C Mutation Analysis
  27. FirstScreen® - First Trimester Screening
  28. Fragile X Syndrome Mutation Analysis
G - K
  1. Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
  2. Gaucher Disease Mutation Analysis
  3. Glycogen Storage Disease Type 1a (GSD1a) Mutation Analysis
  4. InSight® (Interphase FISH for Rapid Detection of Numerical Abnormalities of Chromosomes 13, 18, 21, X & Y)
  5. IntegratedScreenSM
L - S
  1. Maple Syrup Urine Disease (MSUD) Mutation Analysis
  2. Maternal Cell Contamination Comprehensive Analysis (In-House Samples Only)
  3. Maternal Serum Alpha-Fetoprotein (MSAFP)
  4. Microdeletion Analysis
  5. MTHFR (C677T) Mutation Analysis
  6. Mucolipidosis Type IV (MLIV) Mutation Analysis
  7. Nemaline Myopathy Mutation Analysis
  8. Niemann-Pick Disease Type A Mutation Analysis
  9. Pompe Disease Enzyme Test
  10. Pompe Disease Mutation Analysis (GAA) by Sequencing
  11. Prader-Willi/Angelman Syndromes Protocol – Whole Blood Methylation, Chromosomes and FISH Tests
  12. Rh c/E Mutation Analysis
  13. Rh D Mutation Analysis
  14. SequentialScreenSM
  15. SerumIntegratedScreenSM
  16. Sickle Cell Anemia Mutation Analysis
  17. Spinal Muscular Atrophy (SMA) Carrier Testing
T - Z
  1. Tartrate Resistant Acid Phosphatase (TRAP)
  2. Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A)
  3. Tay-Sachs Disease Mutation Analysis
  4. Usher Syndrome Type IF Mutation Analysis
  5. Usher Syndrome Type III Mutation Analysis
  6. Y Chromosome Microdeletion Analysis
  7. Zygosity Testing
Available Tests by Pregnancy Week View All
0-13 Weeks
  1. Angiotensin Converting Enzyme (ACE) Analysis
  2. Ashkenazi Jewish Carrier Testing
  3. Bloom Syndrome Mutation Analysis
  4. Canavan Disease Mutation Analysis
  5. CFTR Intron 8 Poly (T) Analysis
  6. Chitotriosidase Assay
  7. Cystic Fibrosis (CF) Gene Sequencing
  8. Cystic Fibrosis Expanded Mutation Analysis – CFplus®
  9. Cytogenetics – Chorionic Villi Sampling (CVS) Chromosome Analysis
  10. Dihydrolipoamide Dehydrogenase Deficiency Mutation Analysis
  11. Fabry Disease Enzyme Analysis (alpha-galactosidase-A)
  12. Fabry Disease Mutation Analysis by Sequencing
  13. Factor II (Prothrombin) G20210A Mutation Analysis
  14. Factor V Leiden Mutation Analysis
  15. Familial Dysautonomia Mutation Analysis
  16. Familial Hyperinsulinism Mutation Analysis
  17. Fanconi Anemia Group C Mutation Analysis
  18. FirstScreen® - First Trimester Screening
  19. Fragile X Syndrome Mutation Analysis
  20. Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
  21. Gaucher Disease Mutation Analysis
  22. Glycogen Storage Disease Type 1a (GSD1a) Mutation Analysis
  23. InSight® (Interphase FISH for Rapid Detection of Numerical Abnormalities of Chromosomes 13, 18, 21, X & Y)
  24. IntegratedScreenSM
  25. Maple Syrup Urine Disease (MSUD) Mutation Analysis
  26. Maternal Cell Contamination Comprehensive Analysis (In-House Samples Only)
  27. Microdeletion Analysis
  28. MTHFR (C677T) Mutation Analysis
  29. Mucolipidosis Type IV (MLIV) Mutation Analysis
  30. Nemaline Myopathy Mutation Analysis
  31. Niemann-Pick Disease Type A Mutation Analysis
  32. Pompe Disease Enzyme Test
  33. Pompe Disease Mutation Analysis (GAA) by Sequencing
  34. Prader-Willi/Angelman Syndromes Protocol – Whole Blood Methylation, Chromosomes and FISH Tests
  35. Rh c/E Mutation Analysis
  36. Rh D Mutation Analysis
  37. SequentialScreenSM
  38. SerumIntegratedScreenSM
  39. Sickle Cell Anemia Mutation Analysis
  40. Spinal Muscular Atrophy (SMA) Carrier Testing
  41. Tartrate Resistant Acid Phosphatase (TRAP)
  42. Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A)
  43. Tay-Sachs Disease Mutation Analysis
  44. Usher Syndrome Type IF Mutation Analysis
  45. Usher Syndrome Type III Mutation Analysis
  46. Y Chromosome Microdeletion Analysis
  47. Zygosity Testing
14-21 Weeks
  1. Acetylcholinesterase (AChE) Testing
  2. Afp4® Screening – Quadruple Marker Test (AFP, hCG, uE3, Inhibin A)
  3. Amniotic Fluid Alpha-Fetoprotein (AFAFP) Testing
  4. Bloom Syndrome Mutation Analysis
  5. Canavan Disease Mutation Analysis
  6. CFTR Intron 8 Poly (T) Analysis
  7. Chitotriosidase Assay
  8. Cystic Fibrosis (CF) Gene Sequencing
  9. Cystic Fibrosis Expanded Mutation Analysis – CFplus®
  10. Cytogenetics – Amniotic Fluid Chromosome Analysis
  11. Cytogenetics – Blood Chromosome Analysis
  12. Cytogenetics – Chromosome Breakage Analysis (Blood)
  13. Cytogenetics – Products of Conception (POC) Chromosome Analysis
  14. Dihydrolipoamide Dehydrogenase Deficiency Mutation Analysis
  15. Fabry Disease Enzyme Analysis (alpha-galactosidase-A)
  16. Fabry Disease Mutation Analysis by Sequencing
  17. Factor II (Prothrombin) G20210A Mutation Analysis
  18. Factor V Leiden Mutation Analysis
  19. Familial Dysautonomia Mutation Analysis
  20. Familial Hyperinsulinism Mutation Analysis
  21. Fanconi Anemia Group C Mutation Analysis
  22. Fragile X Syndrome Mutation Analysis
  23. Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
  24. Gaucher Disease Mutation Analysis
  25. Glycogen Storage Disease Type 1a (GSD1a) Mutation Analysis
  26. InSight® (Interphase FISH for Rapid Detection of Numerical Abnormalities of Chromosomes 13, 18, 21, X & Y)
  27. IntegratedScreenSM
  28. Maple Syrup Urine Disease (MSUD) Mutation Analysis
  29. Maternal Cell Contamination Comprehensive Analysis (In-House Samples Only)
  30. Maternal Serum Alpha-Fetoprotein (MSAFP)
  31. Microdeletion Analysis
  32. MTHFR (C677T) Mutation Analysis
  33. Mucolipidosis Type IV (MLIV) Mutation Analysis
  34. Nemaline Myopathy Mutation Analysis
  35. Niemann-Pick Disease Type A Mutation Analysis
  36. Pompe Disease Enzyme Test
  37. Pompe Disease Mutation Analysis (GAA) by Sequencing
  38. Rh c/E Mutation Analysis
  39. Rh D Mutation Analysis
  40. SequentialScreenSM
  41. SerumIntegratedScreenSM
  42. Sickle Cell Anemia Mutation Analysis
  43. Spinal Muscular Atrophy (SMA) Carrier Testing
  44. Tartrate Resistant Acid Phosphatase (TRAP)
  45. Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A)
  46. Tay-Sachs Disease Mutation Analysis
  47. Usher Syndrome Type IF Mutation Analysis
  48. Usher Syndrome Type III Mutation Analysis
  49. Y Chromosome Microdeletion Analysis
  50. Zygosity Testing
22+ Weeks
  1. Bloom Syndrome Mutation Analysis
  2. Canavan Disease Mutation Analysis
  3. CFTR Intron 8 Poly (T) Analysis
  4. Chitotriosidase Assay
  5. Cystic Fibrosis (CF) Gene Sequencing
  6. Cystic Fibrosis Expanded Mutation Analysis – CFplus®
  7. Cytogenetics – Amniotic Fluid Chromosome Analysis
  8. Cytogenetics – Blood Chromosome Analysis
  9. Cytogenetics – Chromosome Breakage Analysis (Blood)
  10. Cytogenetics – Products of Conception (POC) Chromosome Analysis
  11. Dihydrolipoamide Dehydrogenase Deficiency Mutation Analysis
  12. Fabry Disease Enzyme Analysis (alpha-galactosidase-A)
  13. Fabry Disease Mutation Analysis by Sequencing
  14. Factor II (Prothrombin) G20210A Mutation Analysis
  15. Factor V Leiden Mutation Analysis
  16. Familial Dysautonomia Mutation Analysis
  17. Familial Hyperinsulinism Mutation Analysis
  18. Fanconi Anemia Group C Mutation Analysis
  19. Fragile X Syndrome Mutation Analysis
  20. Gaucher Disease Enzyme Analysis (Glucocerebrosidase)
  21. Gaucher Disease Mutation Analysis
  22. Glycogen Storage Disease Type 1a (GSD1a) Mutation Analysis
  23. InSight® (Interphase FISH for Rapid Detection of Numerical Abnormalities of Chromosomes 13, 18, 21, X & Y)
  24. Maple Syrup Urine Disease (MSUD) Mutation Analysis
  25. Maternal Cell Contamination Comprehensive Analysis (In-House Samples Only)
  26. Maternal Serum Alpha-Fetoprotein (MSAFP)
  27. Microdeletion Analysis
  28. MTHFR (C677T) Mutation Analysis
  29. Mucolipidosis Type IV (MLIV) Mutation Analysis
  30. Nemaline Myopathy Mutation Analysis
  31. Niemann-Pick Disease Type A Mutation Analysis
  32. Pompe Disease Enzyme Test
  33. Pompe Disease Mutation Analysis (GAA) by Sequencing
  34. Rh c/E Mutation Analysis
  35. Rh D Mutation Analysis
  36. Sickle Cell Anemia Mutation Analysis
  37. Spinal Muscular Atrophy (SMA) Carrier Testing
  38. Tartrate Resistant Acid Phosphatase (TRAP)
  39. Tay-Sachs Disease Enzyme Analysis (Hexosaminidase-A)
  40. Tay-Sachs Disease Mutation Analysis
  41. Usher Syndrome Type IF Mutation Analysis
  42. Usher Syndrome Type III Mutation Analysis
  43. Y Chromosome Microdeletion Analysis
  44. Zygosity Testing