A 5 year old girl presents with seizures and developmental delay

Can you solve the case?

Review the case background and choose from the test options below

How quickly can you diagnose the case?
Begin

A 5 year old girl presents with seizures and developmental delay

Can you solve the case?

Review the case background and choose from the test options below

How quickly can you diagnose the case?
Begin

Clinical and family history

Seizures  

Young female child with recurrent myoclonic seizures beginning at 18 months of age. Diet modification and pharmaceutical intervention have had some effect on the frequency of seizures, but not significantly.

 

Developmental delay

Patient is nonverbal, exhibits gross motor delay.

Summary of testing performed

  • EEG consistent with myoclonic seizures
  • Normal MRI

Family history

  • The family history was unremarkable for seizures and developmental delays

Seizures  

Young female child with recurrent myoclonic seizures beginning at 18 months of age. Diet modification and pharmaceutical intervention have had some effect on the frequency of seizures, but not significantly.

 

Developmental delay

Patient is nonverbal, exhibits gross motor delay.

Summary of testing performed

  • EEG consistent with myoclonic seizures
  • Normal MRI

Family history

  • The family history was unremarkable for seizures and developmental delays

What’s the next step?

Given the early-onset developmental delay and myoclonic epilepsy, it is likely that there may be an underlying genetic etiology.

Given the early-onset developmental delay and myoclonic epilepsy, it is likely that there may be an underlying genetic etiology.

Chromosomal Microarray Analysis

You’ve ordered a Chromosomal Microarray Analysis that provides genome-wide analysis of copy number variants (CNVs) but will miss smaller sequence variants.

This is a logical choice given its acceptance as a first-tier tool when a possible chromosomal abnormality is suspected.

But the results are negative.

You’ve ordered a Chromosomal Microarray Analysis that provides genome-wide analysis of copy number variants (CNVs) but will miss smaller sequence variants.

This is a logical choice given its acceptance as a first-tier tool when a possible chromosomal abnormality is suspected.

But the results are negative.

Which one of the following tests would you order next?

Epilepsy Panel

You’ve ordered a comprehensive Epilepsy Panel that provides sequence and deletion/duplication analysis of 450+ genes.

This is a logical choice given the myoclonic seizures.

Testing identifies variants in two different genes associated with seizures, but they are ruled out as non-causal.

Which of the following tests would you order next?

You’ve ordered a comprehensive Epilepsy Panel that provides sequence and deletion/duplication analysis of 450+ genes.

This is a logical choice given the myoclonic seizures.

Testing identifies variants in two different genes associated with seizures, but they are ruled out as non-causal.

Which of the following tests would you order next?

Which one of the following tests would you order next?

Exome Sequencing

You’ve ordered exome sequencing which provides a broad, phenotype-driven analysis of the exonic regions of all genes.

Exome sequencing is a good choice for investigation of a broader set of genes than is possible with targeted gene or panel testing, but is unlikely to identify smaller deletions and duplications.

A number of variants of uncertain significance (VUS) are identified, but none are able to explain the patient’s phenotype.

Which of the following tests would you order next?

You’ve ordered exome sequencing which provides a broad, phenotype-driven analysis of the exonic regions of all genes.

Exome sequencing is a good choice for investigation of a broader set of genes than is possible with targeted gene or panel testing, but is unlikely to identify smaller deletions and duplications.

A number of variants of uncertain significance (VUS) are identified, but none are able to explain the patient’s phenotype.

Which of the following tests would you order next?

Interested to explore the results of other testing for comparison?

Genomic Unity® Testing

You’ve ordered Genomic Unity® Testing which uniquely uses a whole genome sequencing (WGS) methodology that provides comprehensive sequence, deletion/duplication, copy number variant, mitochondrial variant and tandem repeat expansion analysis.

Testing identifies a de novo pathogenic 2 exon deletion in the NEXMIF gene that is associated with X-linked intellectual disability 98 that is characterized by delayed psychomotor development, poor speech and early-onset seizures.

Congratulations, you’ve solved the case!

You’ve ordered Genomic Unity® Testing which uniquely uses a whole genome sequencing (WGS) methodology that provides comprehensive sequence, deletion/duplication, copy number variant, mitochondrial variant and tandem repeat expansion analysis.

Testing identifies a de novo pathogenic 2 exon deletion in the NEXMIF gene that is associated with X-linked intellectual disability 98 that is characterized by delayed psychomotor development, poor speech and early-onset seizures.

Congratulations, you’ve solved the case!

Interested to explore the results of other testing for comparison?

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