Rhizomelic Chondrodysplasia Punctata Type 1 DNA Test

Are you a genetic carrier for rhizomelic chondrodysplasia punctata? Find out with this DNA Test.

  • Detects the most common PEX7 gene variant that causes rhizomelic chondrodysplasia punctata type 1
  • Carrier screening test intended for couples who are planning to become pregnant
  • 100% private and confidential online results

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Detailed Description

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a rare genetic condition that affects the normal development of many parts of the body. It is characterized by the shortening (rhizomelia) of two proximal bones, the humerus (long bone of the upper arm) and the femur (thigh bone). Another distinguishing feature is the abnormal calcification of cartilage at the ends of the long bones (chrondrodysplasia punctata).

Take this test to find out if you are a genetic carrier of the most common PEX7 variant and are at risk of passing it to your children.

The Genetics

RCDP1 is caused by genetic variation in the PEX7 gene. Pex7 is involved in the transport of several enzymes required for peroxisome assembly. Peroxisomes are membrane-bound cellular compartments necessary for the breakdown of fatty acids and toxins. Affected people do not produce enough Pex7 protein, leading to abnormal fatty acid breakdown and affecting the production of a special fat molecule called plasmalogen.

RCDP1 is inherited in an autosomal recessive pattern, which means two defective copies of the PEX7 gene must be inherited in order for the disease to manifest.

Variant Tested

This test detects the most common genetic variant in the PEX7 gene which causes RCDP1.

  • rs1805137 A variant (L292X)

Understanding your carrier status will help you understand the risk of passing a RCDP1 variant to your children. While carriers do not typically show signs and symptoms of the condition there is a 25% chance the child will inherit the disease if both parents are carriers. 

Signs and Symptoms

Characteristic symptoms include: 

  • Shortening of the humerus and femur (known as rhizomelia)
  • Abnormal build up of cartilage at the end of bones
  • Joint issues
  • Cataracts at birth or develop early in life
  • Severe intellectual disabilities
  • Seizures
  • Frequent lung infections
  • Failure to grow and develop
  • Distinct facial features – prominent forehead, widely set eyes, small nose with upturned nostrils, sunken appearance in the middle of the face, and full cheeks

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.