Maulik R. Shah, MD, PhD

Maulik Shah, MD, PhD
 

Medical Director
Genetic Medicine Clinic
Gainesville, Florida
Assistant Clinical Professor
University of Florida School of Medicine
Gainesville, Florida
Assistant Professor of Internal Medicine
University of Central Florida
Orlando, Florida

What are the multiple benefits of carrier screening? Why should carrier testing be a routine part of the prenatal evaluation process? And what ethnic groups or families will benefit most? Video

What are the multiple benefits of carrier screening? Why should carrier testing be a routine part of the prenatal evaluation process? And what ethnic groups or families will benefit most?

What are the multiple benefits of carrier screening? Why should carrier testing be a routine part of the prenatal evaluation process? And what ethnic groups or families will benefit most?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

Can you be specific about which families -- based on historical features, ethnicity, and other factors -- should be offered carrier testing? Should it be offered to all families prior to conception? Video

Can you be specific about which families -- based on historical features, ethnicity, and other factors -- should be offered carrier testing? Should it be offered to all families prior to conception?

Can you be more specific about which families -- based on historical features, ethnicity, and other factors -- should be offered carrier testing and when? Should it be offered to all families prior to conception?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What current lab technologies -- including high throughput NGS -- have made expanded carrier screening possible? What do the panels report? How many disorders can be screened? Video

What current lab technologies -- including high throughput NGS -- have made expanded carrier screening possible? What do the panels report? How many disorders can be screened?

What current lab technologies -- including high throughput NGS -- have made expanded carrier screening possible? What do the panels report? How many disorders can be screened? And how has bioinformatics help better identify carrier risk?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

Can you take us through the flow of an actual patient and explain how you use SNP-based NGS carrier screening to provide genetic counseling? Video

Can you take us through the flow of an actual patient and explain how you use SNP-based NGS carrier screening to provide genetic counseling?

Can you take us through the flow of an actual patient and explain how you use SNP-based NGS carrier screening to provide genetic counseling?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What types of diseases are typically considered for carrier screening? Video

What types of diseases are typically considered for carrier screening?

What types of diseases are typically considered for carrier screening?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

How does carrier screening differ from diagnostic testing? Video

How does carrier screening differ from diagnostic testing?

How does carrier screening differ from diagnostic testing?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What are the recommended guidelines for carrier screening? What are the similarities and differences among different professional societies and associations? Video

What are the recommended guidelines for carrier screening? What are the similarities and differences among different professional societies and associations?

What are the recommended guidelines for carrier screening? What are the similarities and differences among different professional societies and associations?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What are the recommended next steps for couples who screen positive? Video

What are the recommended next steps for couples who screen positive?

What are the recommended next steps for couples who screen positive?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

How has carrier screening for cystic fibrosis changed? Video

How has carrier screening for cystic fibrosis changed?

How has carrier screening for cystic fibrosis changed?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What are the benefits of enhanced SMA (spinal muscular atrophy) testing? Video

What are the benefits of enhanced SMA (spinal muscular atrophy) testing?

What are the benefits of enhanced SMA (spinal muscular atrophy) testing?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What are the benefits of AGG interruption testing as part of carrier screening for Fragile X syndrome? Video

What are the benefits of AGG interruption testing as part of carrier screening for Fragile X syndrome?

What are the benefits of AGG interruption testing as part of carrier screening for Fragile X syndrome?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

Why is carrier screening for Duchenne Muscular Dystrophy now being offered? Video

Why is carrier screening for Duchenne Muscular Dystrophy now being offered?

Why is carrier screening for Duchenne Muscular Dystrophy now being offered?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What is the benefit of molecular carrier screening for hemoglobinopathies when the gold standard for screening has been CBC with hemoglobin electrophoresis? Video

What is the benefit of molecular carrier screening for hemoglobinopathies when the gold standard for screening has been CBC with hemoglobin electrophoresis?

What is the benefit of molecular carrier screening for hemoglobinopathies when the gold standard for screening has been CBC with hemoglobin electrophoresis?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

How long does it typically take to receive carrier screening results? Video

How long does it typically take to receive carrier screening results?

How long does it typically take to receive carrier screening results?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

Are all expanded carrier screenings the same? How do these technologies differ? What screening technology do you use and why? Video

Are all expanded carrier screenings the same? How do these technologies differ? What screening technology do you use and why?

Are all expanded carrier screenings the same? How do these technologies differ? What screening technology do you use and why?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

Is it appropriate to offer concurrent patient/partner carrier screening? Video

Is it appropriate to offer concurrent patient/partner carrier screening?

Is it appropriate to offer concurrent patient/partner carrier screening?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

How often do we encounter false-positive and false-negative results and how do we determine positive predictive value? Video

How often do we encounter false-positive and false-negative results and how do we determine positive predictive value?

How often do we encounter false-positive and false-negative results and how do we determine positive predictive value?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD

What impact do the results of carrier screening have on non-health related issues and affordability? Video

What impact do the results of carrier screening have on non-health related issues and affordability?

What impact do the results of carrier screening have on non-health related issues and affordability?
Maulik Shah, MD, PhD

Maulik Shah, MD, PhD