MISSED BY OTHERS, DETECTED BY US
Genomic Unity® Case Study
Clinical presentation
A newborn female presented with a prenatal history and postnatal findings suggestive of congenital osteopetrosis including:
- IUGR suspected for skeletal dysplasia
- Diffuse sclerosis consistent with osteopetrosis
- Bilateral 5th fingers clinodactyly
Previous genetic testing
Multiple prenatal and postnatal tests were performed with negative or non-diagnostic results including:
- cfDNA screening
- Chromosomal microarray (x2)
- Skeletal dysplasia panel
- Expanded skeletal dysplasia panel
Genomic Unity® Testing
was ordered because of its ability to identify all major variant types in a single test.
Results and interpretation
Variantyx Genomic Unity® testing identified compound heterozygous, pathogenic splice variants in the SBDS gene.
The findings provided guidance for clinical management and treatment including avoiding the need for an invasive liver biopsy, demonstrating the importance of a timely diagnosis.
Diagnosis: Shwachman-Diamond syndrome
Uniform data from WGS clearly shows the two splice variants.
The Variantyx Difference
Why were these splice variants detected by Genomic Unity® testing, and not detected by other tests?
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The SBDS gene is hard to sequence and interpret due to pseudogene interference (SBDSP1).
Variantyx genome analysis uses PCR-free sequencing, avoiding issues with probe design and performance in low diversity and repetitive regions which can be an issue for the panel tests performed as well as exome tests.
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SNVs are not detectable by chromosomal microarray.
With a detection range from 1 bp to whole chromosomal events, Variantyx genome analysis is able to detect CNVs and small sequence changes within a single test.
Variantyx tests that would have identified these variants
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