Disorders we do not test for

Recessive Disorders we do not test for:

These recessive Jewish genetic disorders are NOT covered on our carrier test.

There are Jewish genetic disorders that are important to be aware of but have not been included on our testing panel.

These conditions do not fulfil our inclusion criteria, as set in consultation with our clinical partners at North West Thames Regional Genetics Service, our Science and Medical Advisor Board, and our Trustees. These criteria include treatability, impact on life span, and severity.

The disorders are listed below, with a short summary and links for more information.

Familial Mediterranean Fever

Familial Mediterranean fever (FMF) is characterised by recurring episodes of painful inflammation in the abdomen, chest, or joints. FMF occurs predominantly in Sephardic Jews, though people of Ashkenazi Jewish origin can also be affected – often with a milder form of the condition. The symptoms of FMF can be easily treated in most patients.

Among Jews from Libya, Algeria, Tunisia, and Morocco the carrier frequency for FMF is approximately 1 in 6, whilst in Jews from Iraq and Turkey the carrier frequency is approximately 1 in 13.

The carrier frequency among Ashkenazi Jews is generally thought to be much lower, although a carrier rate of up to 1 in 5 has been reported in some studies.

For more information and support please see below:

https://www.fmfandaid.org/ →

An umbrella organisation of patient groups with Familial Mediterranean Fever and Autoinflammatory Diseases.

Ariella’s Story →

Click on the link above to watch a short video of Ariella telling her personal story of her experiences living with FMF.

Non classical Congenital Adrenal Hyperplasia

Non-classical congenital adrenal hyperplasia (NCCAH or NCAH) is a hormonal autosomal recessive disorder characterized by early signs of puberty namely excessive hair growth, increase in height and acne. It can also involve decreased fertility as well as menstrual problems in females. This non-classical form is much milder than the classical form of CAH, and can be treated effectively using steroid hormones.

The carrier frequency of non-classical congenital adrenal hyperplasia is approximately 1 in 3 Ashkenazi Jews. In the wider population the carrier frequency is 1 in 100 people.

The disease frequency in Ashkenazi Jews is approximately 1 in 27.

For more information and support please see below:

Living with CAH →

This support organisation exists to give support to families and people with the disorder, to increase awareness of the condition to the public and to the medical profession, and to raise funds to support research.

CARES Foundation →

CARES Foundation leads in the effort to improve the lives of the Congenital Adrenal Hyperplasia community and seeks to advance quality health care through support, advocacy, education and research.

Factor XI Deficiency

Factor XI deficiency (also known as PTA deficiency) is a bleeding disorder characterised by easy bruising, and abnormal bleeding after dental work, surgery, and injury. In women it can also cause heavy or prolonged bleeding during menstrual periods and after childbirth. Although symptoms vary widely, the condition is usually mild and can be treated effectively.

Factor XI deficiency is an autosomal condition that is partially dominant. This means that a person can show symptoms even when they inherit only one abnormal Factor XI gene, however, they are likely to be affected more if they inherit two abnormal Factor XI genes, one from each parent.

Estimates suggest that approximately 1 in 12 Ashkenazi Jews carry one abnormal Factor XI gene, whereas the condition is found in approximately 1 in 10,000 people in the general population. Factor XI deficiency is also found to be more common in Iraqi Jews relative to the general population.

Unlike in Haemophilia A and B, bleeding in joints and muscles is uncommon in Factor XI deficiency.

For more information and support please see below:

The Haemophilia Society →

The Society is the only national and independent organisation for all people affected by bleeding disorders. It provides information and support for all people affected by bleeding disorders, including

Factor XI deficiency, and represents their interests.

Tel: 020 7831 1020

Freephone: 0800 018 6068

Circumcision London →

Dr Martin Harris is a circumcision surgeon and a mohel with knowledge and experience of carrying out circumcisions in families with Factor XI deficiency. In collaboration with the Royal Free centre he was involved in developing a protocol for the management of circumcision on the male infants of Factor XI deficient patients.

Gaucher Disease (type 1)

Gaucher disease (type 1) is an autosomal recessive condition characterised by low blood counts, enlargement of the spleen and liver as well as bone problems including pain. Age of onset and severity of symptoms vary enormously. Treatment is available to manage the symptoms of the condition.

Of the three types of Gaucher disease (type 1, 2 and 3), Type 1 is the most common and the only one which is more prevalent among people of Ashkenazi Jewish ancestry relative to the general population.

The carrier frequency of Gaucher disease (type 1) among Ashkenazi Jews is approximately 1 in 12.

Some individuals with Gaucher disease (type 1) show symptoms in childhood whereas many others remain relatively symptom-free throughout their lives.

Although the range and severity of symptoms vary greatly, common symptoms can include:

  • Enlargement of the spleen and/or liver
  • Anaemia (low haemoglobin and red cells in the blood)
  • Easy bruising and bleeding (due to low platelets and other blood clotting abnormalities)
  • Pain and degeneration of joints and bones
  • Bone deterioration leading to increased susceptibility to fractures and other bone problems
  • General fatigue
For more information and support please see below:

Gauchers Association UK →

This Association provides information about all types of Gaucher Disease (GD); keeps families and medical advisers up to date with research developments; offers a support network for affected families; encourages the availability of treatment and provides details on how treatment can be accessed; and actively promotes medical research.