Case study series

Mendelian Inheritance Error: Familial relationships and sample swaps

Dr. Katie Rudd, PhD, FACMG
Medical Director, Cytogenetics and Genomic Microarray Lab
ARUP Laboratories

Mendelian Inheritance Error: Familial relationships and sample swaps

In this tips and tricks webinar Dr Katie Rudd talks about ARUP’s experience in understanding the role of the Mendelian Inheritance Error (MIE) tool to investigate unrelated and identical sample swaps, confirm familial relationships, and demonstrate non-parentage.

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Utility of a custom targeted genotyping array for carrier screening research

Dr. Linda Hasadsri, PhD
Director, Molecular Technologies Laboratory
Chair of Equity, Inclusion, and Diversity (EID)
Department of Laboratory Medicine and Pathology, Mayo Clinic

Utility of a custom targeted genotyping array for carrier screening research

Despite professional medical society recommendations to offer carrier screening for over 100 different germline disorders to all individuals of reproductive age, insurance coverage for large panels continues to remain a barrier to widespread adoption. Moreover, not all laboratories have the operational means to implement such testing at the cost, turnaround time, and throughput typically required in the setting of prenatal care.

In this webinar, Linda Hasadsri, director of the molecular technologies laboratory at Mayo Clinic, will present the pros and cons of utilizing a custom targeted genotyping array for carrier screening of over 200 different genetic disorders, our unique approach to supplemental coverage and confirms, and, finally, our discovery yield in the first 8,000 samples received for testing.

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SNP Chromosomal Microarray, the allelic difference

Dr. Elizabeth McCready PhD, FACMG
Associate Professor, Department of Pathology and Molecular Medicine
McMaster University

Head of Molecular Cytogenetics
Hamilton Regional Laboratory Medicine Program (HRLMP) Genetics Laboratories

Discover the versatility of SNP microarrays

Although not originally well-highlighted as an advantage of chromosome microarray testing, allelic patterns of single nucleotide polymorphic (SNP) loci have also emerged as an important tool to detect relevant chromosome aberrations that may not be apparent by more classical cytogenetic approaches.

In this short webinar, through examination of several exceptional cases, Dr. McCready showcases the utility of the SNP variant allele difference pattern to investigate simple and complex chromosome rearrangements.

The importance of SNP allele patterns to identify regions of homozygosity and possible uniparental disomy will also be explored through examples highlighting the flexibility and versatility of SNP allelic difference patterns as a complimentary, indispensable tool in the molecular cytogenetic testing tool box.

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Challenging microarray cases and the approaches for analysis of unusual findings

Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics
Labcorp

How can you solve more unusual cases with CMA?

Microarray analysis continues to be an important technology in cytogenetics laboratories.

Not all findings are straightforward, and a combination of copy number variants (CNV) and SNP alleles must be utilized to resolve the underlying anomalies and their mechanism of formation.

In this short webinar, learn from Dr. Schwartz as he speaks to several novel and unusual prenatal and oncology cases.

Topics include:

• Mosaicism
• NIPT follow‑ups
• Uniparental disomy
• Copy-neutral loss of heterozygosity
• Transplant study cases

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Determining the genetic cause of disease by application of exon-level array as a complement to exome sequencing

Dr. Benjamin Hilton
Assistant Director of the Cytogenomics Laboratory
Greenwood Genetics Center

How can you increase your discovery yield?

Whole-exome sequencing (WES) and whole-genome microarray have allowed for the discovery of a wide variety of diseases that are associated with aberrations in the genome. However, these technologies may not detect some exon-level copy number variation (CNV), leaving cases unsolved. The implementation of an exon-level array has allowed for the evaluation of exon-level CNVs that previously were either difficult to identify or missed entirely by other testing methods.

By bridging the gap of detection between these technologies, Dr. Hilton illustrates how an answer can be attained.

Topics include:

• Recommendation of cytogenetic evaluation to look for chromosomal abnormalities
• Workflow
• Case review for various research areas such as abnormal prenatal testing, multiple congenital anomalies, and fetal demise
• Case findings and key learnings  

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Case #1 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Catherine Rehder, PhD
Associate Professor of Pathology and Director, Division of Molecular Pathology, Genetics and Genomics
Duke University

These cases will demonstrate the power of using both a SNP-based analysis combined with high resolution DNA copy number analysis in the identification of chromosome abnormalities and genetic aberrations in researching pregnancy loss and genetic syndromes.

Topics include: 

• How to put the puzzle pieces together 
• Case workup, analysis, and major findings
• Lessons learned

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Case #2 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Kristen Deak, PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics
Duke University

In this episode, Dr. Deak will illustrate complex chromosomal rearrangements and rare events including insertional duplications. 

Topics include: 

• How to put the puzzle pieces together 
• Case workup, analysis, and major findings
• Lessons learned

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Case #3 Hybrid SNP array analysis in action: a practical approach to complex problems in the era of NGS

Dr. Kristen Deak, PhD
Associate Director of Cytogenetics and Molecular Laboratories, Division of Molecular Pathology, Genetics and Genomics
Duke University

This final episode with Dr. Deak focuses on challenging chromosome rearrangements such as unbalanced insertions and inversions. Showcasing the value of microarray that ultimately found the answer to an otherwise unsolved question.

Topics include: 

• How to put the puzzle pieces together 
• Case workup, analysis, and major findings
• Lessons learned

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Using hybrid-SNP microarrays to delineate UPD in cytogenetic samples

Stuart Schwartz, PhD, FACMG
Strategic Director, Cytogenetics, Women’s Health and Genetics
Labcorp

Discover how hybrid-SNP Arrays made a difference in real world studies of complex genetic cases. Dr. Stuart Schwartz talks about how the use of hybrid-SNP arrays in identifying UPD may increase the success of diagnosis in future.

Topics include:

• Frequency and importance of UPD
• Major findings: case studies
  • Normal karyotype and no CNV change
  • Recessive genes
  • Normal karyotype and NIPT
  • Suspected UPD or consanguinity
  • Mendelian Inheritance Error
  • Incorrect NIPT
• Literature review
• Summary and conclusion
  
  

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