Connective Tissue Disorders Panel – Comprehensive Genetic Testing at MD Genetic Clinic

Overview of the Connective Tissue Panel 

At MD Genetic Clinic, we offer the Connective Tissue Disorders Panel, which analyzes 92 genes linked to a wide range of inherited connective tissue disorders including Ehlers Danlos Syndrome.

Connective tissue disorders often affect multiple body systems,  including bones, joints, skin, blood vessels, and eyes,  making diagnosis based solely on symptoms challenging.

This broad panel helps identify the underlying genetic cause efficiently, guiding personalized treatment, surveillance, and family planning.

Schedule Your Consultation to discuss if Connectivwe Tissue Panel  is right for you.

Why choose the Connective Tissue Panel at MD Genetic Clinic? 

• Led by a board-certified physician specializing in Medical and Biochemical Genetics

• Expertise in diagnosing rare and complex connective tissue conditions including Ehlers Danlos Syndrome 

• Telehealth appointments for flexible access

• Insurance assistance and transparent cost estimates

• Genetic counseling before and after testing

Conditions Tested in the Connective Tissue Panel 

The  connective tissue  panel detects variants linked to a wide spectrum of disorders, including those with vascular, skeletal, dermatologic, and ocular features.

Vascular and Aneurysm-Related Disorders

• Vascular Ehlers-Danlos syndrome (vEDS)

• Loeys-Dietz syndrome

• Arterial tortuosity syndrome

• COL4A1-related disorders

• Autosomal dominant polycystic kidney disease (vascular involvement in some cases)

Ehlers-Danlos Syndrome (EDS) Subtypes

• Classic EDS

• Vascular EDS

• Kyphoscoliotic EDS

• Arthrochalasia EDS

• Dermatosparaxis EDS

• Brittle cornea syndrome

Skeletal and Joint Disorders

• Larsen syndrome

• Congenital contractural arachnodactyly (Beals-Hecht syndrome)

• Camurati-Engelmann disease

• Buschke-Ollendorff syndrome

• BGN-related skeletal dysplasia and Meester-Loeys syndrome

Cutis Laxa and Skin Disorders

• Cutis laxa (various genetic forms)

• Geroderma osteodysplastica

Ocular and Lens Disorders

• Ectopia lentis

• Brittle cornea syndrome

Other Multisystem Connective Tissue Disorders

• Fibrodysplasia ossificans progressiva

• Geleophysic dysplasia

• COG7-congenital disorder of glycosylation

• Homocystinuria (CBS deficiency)

• Birt-Hogg-Dubé syndrome

When the Genetisit Considers Connective Tissue Panel Genetic testing? 

You may benefit from this panel if you or your family members have:

• A history of aortic aneurysm, arterial dissection, or vascular rupture

• Unexplained joint hypermobility, chronic joint pain, or frequent dislocations

• Skin fragility, abnormal scarring, or unusual skin elasticity

• Eye problems such as lens dislocation or extreme corneal thinning

• Skeletal abnormalities like scoliosis, short stature, or long slender limbs

• A family history of known connective tissue disorders

The Connective Tissue Panel Process at MD Genetic Clinic 

• Genetic counseling to discuss your history, symptoms, and family background

• Sample collection (blood or saliva)

• Laboratory analysis of 92 genes at Invitae

• Results review in a follow-up consultation, with discussion of medical management and family implications

Benifits of the Connective Tissue Panel Genetic Testing 

• Early diagnosis for proactive management

• Identification of at-risk family members

• Clarification of prognosis

• Access to targeted treatments and clinical trials

Schedule Your Appointment to Discuss if Connective Tissue Panel is Right for You

Take the first step toward answers.
Our genetic team will guide you through every stage,  from counseling to results.

Schedule an Appointment
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