English/FrançaisFor US and Canada Healthcare Professionals

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 over 300 genes
    • Includes approximately 260 genes associated with skeletal dysplasias, plus additional skeletal disorders
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 management 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
  • Over 300 genes included, covering many of the most common skeletal dysplasias.6 Disorders tested include but are not limited to:
    • Achondroplasia
    • Diastrophic dysplasia
    • Hypochondroplasia
    • Osteogenesis imperfecta (OI)
    • Thanatophoric dysplasia
    • Multiple epiphyseal dysplasia (MED)
    • Spondyloepiphyseal dysplasia congenita (SEDC)
For a full list of the genes covered, download the test requisition form.
Sample type
  • Three different sample collection methods (blood, saliva, buccal swab)
  • Test kits can be sent directly to a patient’s home
Receiving results
  • You will receive results 10 to 21 days after lnvitae receives the sample, on average
  • Create an online account to log in anytime and check the status of your order
Interpreting results
  • Board‐certified genetic counselors are available to help ordering physicians interpret results
  • Expert genetic counselors are available to your patients and their families to offer support with interpretation of results