What Does NxGen MDx Screen For?

We screen for up to 120 genetic disorders that can affect your pregnancy, the health of your baby, and your family's future. You can learn more about our various screens — and which sets of screens (or "panels") align with where you are in your reproductive journey.

What Does NxGen MDx Screen For?

Bardet-Biedl Syndrome, MMKS-Related

What Your Test Results Mean:

Test results indicate that you are a carrier of Bardet-Biedl syndrome, MMKS-related. Carriers are not expected to show symptoms. You and your partner would both have to be carriers of Bardet-Biedl syndrome, MMKS-related for there to be an increased chance to have a child with symptoms; this is known as autosomal recessive inheritance. Bardet-Biedl syndrome can be caused by changes in a variety of genes. Carrier testing for genes related to Bardet-Biedl syndrome of your partner or donor is recommended in addition to consultation with a genetic counselor for a more detailed risk assessment.

Since this is an inherited gene change, this information may be helpful to share with family members as it may impact their family planning.

Disease Explained:

Bardet-Biedl syndrome, MMKS-related, also known as Bared-Biedl 6 (BBS6), is an inherited condition characterized by progressive vision loss, obesity, extra fingers or toes, intellectual disability, kidney disease, and abnormalities of the genitalia. Signs and symptoms of Bardet-Biedl can vary between affected individuals and even members of the same family. Complications from obesity can include type 2 diabetes, high blood pressure, and high cholesterol. Affected males produce reduced amounts of sex hormones (hypogonadism) and are usually infertile. Bardet-Biedl syndrome can additionally affect the heart, liver, and digestive system.

Variants in the MMKS gene can also cause an autosomal recessive condition called McKusick-Kaufman syndrome (MKS), an inherited condition that shares many of the same symptoms as Bardet-Biedl syndrome. It is characterized by a combination of three features: extra fingers and/or toes, heart defects, and genital abnormalities.
Most females with McKusick-Kaufman syndrome are born with hydrometrocolpos, which is a large accumulation of fluid in the pelvis. Genital abnormalities in males with McKusick-Kaufman syndrome can include placement of the urethral opening on the underside of the penis, a downward-curving penis, and undescended testes.

Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman syndrome. These include vision loss, delayed development, obesity, and kidney (renal) failure. Because some of these features are not apparent at birth, the two conditions can be difficult to tell apart in infancy and early childhood.

Prognosis

Prognosis varies for individuals with Bardet-Biedl syndrome, as symptoms and severity can vary. Most affected individuals are legally blind by early adulthood. Kidney failure is the most common cause of death. With early diagnosis and consistent management, some individuals can have a normal life expectancy.

The prognosis of McKusick-Kaufman syndrome differs from Bardet-Biedl syndrome as kidney failure is not noted in these individuals. There is limited data regarding life expectancy for individuals with MKS, but life expectancy is not known to be reduced.

Treatment

Treatment for Bardet-Biedl syndrome is symptomatic as there is no known cure. Dialysis and/or kidney transplantation can be considered for kidney disease. Diet and exercise can be beneficial to manage obesity. Extra fingers and toes can be removed by surgery if wanted. Some affected individuals additionally benefit from early intervention or attending a school for the visually impaired.

Treatment for MKS focuses on surgically repairing a congenital heart defect if necessary as well as drainage of the fluid related to hydrometrocolpos. Extra fingers and toes can be removed by surgery if wanted as well.

Which Screens Are Right for You?

Determining which screens or set of screens are right for you will depend on where you are in your reproductive journey. Tell us where you are today so you can learn more about how to move forward tomorrow.

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Talk to a Genetic Counselor

As a NxGen client, you'll have access to personal genetic counselors who can help explain the results of your screens and provide insight on how to move forward. To schedule a personal conference to discuss your screen results, call (855) 776-9436. or click the link below.

Discuss Your Screening Results