Skeletal Dysplasia Genetic Panel
Hereditary skeletal condition screening
What is this test?
Our Skeletal Dysplasia Genetic Panel covers over 400 genes associated with hereditary bone and cartilage disorders. From achondroplasia and osteogenesis imperfecta to rare skeletal ciliopathies, this comprehensive test can provide a definitive diagnosis, guide orthopedic management, and inform recurrence risk for families.
Key Benefits
The International Skeletal Dysplasia Registry recognizes over 460 distinct disorders. Our panel covers the vast majority in a single test.
For pregnancies with concerning ultrasound findings, this test can be performed on amniocytes or CVS to guide pregnancy management.
Different skeletal dysplasias require very different management — from bisphosphonates for OI to growth hormone for specific conditions.
Knowing the specific gene and inheritance pattern allows accurate risk counseling for future pregnancies.
How It Works
Your geneticist or orthopedic specialist evaluates clinical and radiographic findings to determine testing is appropriate.
A blood sample is drawn, or prenatal material (amniocytes/CVS) is submitted for urgent prenatal cases.
400+ skeletal genes are sequenced with high coverage, including CNV analysis for genes with known deletions.
Molecular geneticists correlate variants with the Nosology of Genetic Skeletal Disorders classification system.
Report includes molecular diagnosis, inheritance pattern, recurrence risk, and management recommendations.
Who should consider this test?
- Individuals with clinical or radiographic features of skeletal dysplasia
- Families with a history of short stature, bone fragility, or skeletal anomalies
- Prenatal cases with ultrasound findings suggestive of skeletal abnormalities
- Children with disproportionate growth or recurrent fractures
- Couples seeking recurrence risk assessment after a previously affected pregnancy
Conditions Screened
Accuracy & Clinical Evidence
>99% analytical sensitivity for SNVs and small indels in targeted coding regions
The International Nosology and Classification of Genetic Skeletal Disorders (2023 revision) recognizes over 460 distinct conditions caused by variants in more than 430 genes. NGS panels achieve diagnostic yields of 30–50% in clinically suspected skeletal dysplasias.
Scientific Detail
The panel captures coding exons and ±20 bp flanking intronic regions of 400+ genes. Analysis includes SNV/indel detection and read-depth-based CNV calling. Variants are classified per ACMG/AMP 2015 guidelines with cross-referencing to the Skeletal Dysplasia Nosology, OMIM, and the International Skeletal Dysplasia Registry databases.
For Healthcare Providers
Sequencing covers 400+ genes on the Nosology of Genetic Skeletal Disorders list plus candidate genes. Mean coverage >100x with CNV detection via ExomeDepth for all targeted genes. Prenatal specimens are accepted with a recommended minimum of 10 ng of extracted DNA. Reflex to trio WES is available.
Important Limitations
- Some skeletal dysplasias are caused by somatic mosaic variants that may be below the detection threshold of blood-derived DNA.
- Complex structural rearrangements and balanced translocations are not detected by this panel.
- Prenatal specimens require adequate DNA quantity; testing may need to be deferred if insufficient material is obtained.
- Variants of uncertain significance may be reported and may require parental testing for reclassification.
- Type I collagen variants (COL1A1/COL1A2) may be present in mosaic form, requiring additional testing for confirmation.
Frequently Asked Questions
Test Details
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Speak with our team to learn more about ordering this test or to get a consultation.
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