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There may be a genetic cause to your patients’ skeletal dysplasias1
Most skeletal dysplasias have a genetic cause
Skeletal dysplasias are a heterogeneous group of 461 genetic disorders—92% of which already have a specifically identified genetic basis2
The Discover Dysplasias™ panel tests 150 genes
Diagnostic delays can negatively impact outcomes
Diagnostic delays, due to the complex nature of skeletal dysplasias, may lead to less optimal patient outcomes. Genetic testing can help facilitate prompt diagnosis1,3-5
Many genes are actionable
Identifying the underlying cause of a patient’s skeletal dysplasia by ordering a genetic test may help facilitate a diagnosis sooner and in some cases, may allow you to tailor disease-specific management plans5,6
Precise diagnoses can impact patient care
Target the specific condition
A panel for skeletal dysplasias focuses on a targeted number of genes related to a specific clinical diagnosis, vs whole exome gene sequencing6,7
Facilitate more accurate diagnoses
Having the correct, precise diagnosis can lead to targeted treatment5,6,8,9
Tailor treatment plans
Earlier diagnosis and prompt initiation of effective, disease‐specific interventions may allow for a proactive and multidisciplinary management approach1,6,10,11
Meet Sara, 27 And her 18‐year diagnostic journey
Height
4 ft, 7.5 in
Family history
Pectus carinatum
Additional challenges
Five ear tube surgeries
Ankle surgery
Heart murmur/tachycardia
Poor vision, requiring glasses
Age 8
Presented with abnormal gait and diagnosed with spondyloepiphyseal dysplasia (SED)
Age 10–11
Two corneal transplants
Age 16
Cervical spinal fusion surgery (C1–C4)
Age 17–18
Two hip replacements
Age 26
Met with a genetic counselor during pregnancy and inquired about confirming her SED diagnosis
Instead diagnosed by enzyme analysis with Morquio A (MPS IVA ), a multisystemic, progressive condition with diverse presentations that can complicate patient identification11
Additional challenges
Five ear tube surgeries
Ankle surgery
Heart murmur/tachycardia
Poor vision, requiring glasses
Genetic testing may have shortened Sara’s diagnostic odyssey.
Discover Dysplasias™ includes the gene associated with Morquio A.
MPS IVA, mucopolysaccharidosis type IVA.
Discover Dysplasias™ provides no‐charge genetic testing for patients suspected of having a skeletal dysplasia. Discover Dysplasias™ can help facilitate diagnosis and, in some cases, put patients on the path to disease‐specific management sooner1,6
Who it’s for
Discover Dysplasias™ is available at no charge for eligible patients in the US and Canada suspected of having a skeletal dysplasia
Genes tested
Covers over 150 genes selected based on recommendations from an expert panel. Disorders tested include but are not limited to: