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Disorders We Test For

Which Disorders Do We Test For?

Click on the image below to expand and view the full list of the 48 severe recessive Jewish genetic disorders covered on our carrier test. Included in this table is  Fragile X Syndrome, an X-linked recessive disorder, for which testing is offered as an option for females testing at The Jnetics Clinic only. 

 

PLEASE EMAIL SCREENING@JNETICS.ORG IF YOU HAVE ANY QUESTIONS. 

 

Jewish genetic disorders 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 test. This is because they 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 disorders are listed below, with a short summary and links for more information. If you would like any more information about these disorders, please contact the Jnetics office by emailing screening@jnetics.org

The BRCA associated cancers are passed one via a dominant inheritance pattern, making testing for this disorder as part of our established carrier screening service inappropriate. More information about BRCA associated cancers can be found here

Familial Mediterranean fever (FMF) is characterized 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 the vast majority of patients.

Familial Mediterranean fever is most commonly found in Sephardi Jews. Among Jews from Libya, Algeria, Tunisia and Morocco 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:
FMF support group – Yahoo Group
An online support group for individuals and their families who are affected by Familial Mediterranean fever (FMF).

Stop CAID Now (Stop childhood autoinflammatory diseases now)
This USA based charity aims to educate, raise awareness, and fund researchers who are committed to finding a cure for CAIDs.
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 (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 further information and support please see below
CAH Parent and Patient Support Group
Patients and parents often feel alone in their journey in dealing with CAH. The CAH IS US support group was founded to help and offer support as well as give both parents and older patients the chance to meet, exchange ideas and share experiences.
Living with CAH
This support organisation is a sub group of CLIMB (Children Living with Inherited Metabolic Diseases). It 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
The Congenital Adrenal Hyperplasia Research Education & Support Foundation is committed to improving lives through proactively advancing research for better understanding of CAH, better treatments and a cure, as well as through education, advocacy, resources and support services.

DYT1 generalised dystonia is an autosomal dominant neurological movement disorder that is characterised by involuntary, sustained, twisting muscle spasms. Onset is typically in mid to late childhood. Symptoms tend to start in one limb then often spread to other limbs and adjoining body areas leading to progressive disability.

For more information and support about this disorders please see below

The Dystonia Society
This UK-wide charity provides a wide range of services, advice and information for anyone affected by dystonia. It aims to facilitate access to the most appropriate treatment, support and information available; to raise awareness of the condition; and to promote research. Their website includes information about all types of dystonia, living with the condition, support services, research, and links to additional resources. This site also contains a forum for support and information.

Helpline number: 0845 458 6322 or 020 7793 3658
Office number: 0845 458 6211

Dystonia Medical Research Foundation (USA)
The DMRF is a USA-based organisation that provides support and information to those affected by dystonia and is deeply involved in dystonia-related research initiatives. Their website provides information about all types of dystonia, past and current research, treatment, support, and activities to raise awareness and progress understanding and treatment. It also has a sister organisation in Canada – Dystonia Medical Research Foundation Canada.

European Dystonia Federation (Europe)
The EDF is a collaborative effort by European dystonia groups to raise the profile of dystonia and influence health and government policies at a European level. Their website includes links to member organisations, the dystonia international patient registry and other resources.

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 further information and support:
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

Haemophilia Society Facebook Page
A facebook page for the Haemophilia Society which includes support resources.

The United Kingdom Haemophilia Centre Doctors’ Organisation
The UKHCDO is an association of medical practitioners who work within the Haemophilia Centres
of England, Scotland, Northern Ireland or Wales. This link provides contact information for all the
different NHS Haemophilia centres across the UK.

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.
Telephone: 020 8209 2401

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 further 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.
Tel/Fax: 01453 549 231
The site also provides details of the specialist Lysosomal Storage Disorder centres in the UK in their links section.

Gaucher Disease Facebook Group
A closed support group on Facebook for people with Gaucher disease.

European Gaucher Alliance (Europe)
This Alliance, which now has a membership of 27 countries, facilitates the collaboration of Gaucher patient groups across Europe. It aims to: collect and disseminate information on new developments about GD; provide guidance and encourage GD patient groups; represent GD patient interests internationally; encourage and promote research; provide a forum to address ethical issues relating to GD, and ensure that suitable treatment is available to all GD patients.

National Gaucher Foundation (USA)
This American organisation offers a wide range of programs and resources for the benefit of the Gaucher community. It funds research, offers financial assistance, promotes education and awareness, supports legislative issues and provides outreach programs vital to the Gaucher community in the USA.