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Ashkenazi Jewish

Genetic Testing for Ashkenazi Jewish Health Risks – Know Your Inherited Risks

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787 Genes

Tested in our Carrier Screening Test

Our panels are pan-ethnic, covering ~800 genes appearing in various groups. We can also facilitate an Ashkenazi Jewish focus panel, if you would prefer.

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50 Genes

Tested in our Cancer Panel

Ashkenazi Jewish populations are particularly suceptible to BRCA genes and others. Get tested today to

>70%

Lifetime risk for carriers of BRCA1 for Breast Cancer

For Ovarian cancer the lifetime risk is between 11-17%. For Prostate cancer the risk is 20-25%.

Gene Associated Disease/Condition Ashkenazi Carrier Frequency
MEFV Familial Mediterranean fever 1 in 4-7
F11 Factor XI deficiency 1 in 8-11
GBA Gaucher disease 1 in 10-15
CFTR Cystic fibrosis 1 in 23-29
GJB2 Nonsyndromic hearing loss and deafness 1 in 25-30
HEXA Tay-Sachs disease 1 in 25-30
ELP1 (IKBKAP) Familial dysautonomia (Riley-Day syndrome) 1 in 27-32
DHCR7 Smith-Lemli-Opitz syndrome 1 in 30-50
BRCA1 Hereditary breast and ovarian cancer syndrome 1 in 40 (founder mutations)
BRCA2 Hereditary breast and ovarian cancer syndrome 1 in 40 (founder mutations)
ASPA Canavan disease 1 in 40-60
SMN1 Spinal muscular atrophy 1 in 41-67
APC Familial adenomatous polyposis (colorectal cancer) 1 in 50 (I1307K variant)
ABCC8 Familial hyperinsulinism 1 in 52
CPT2 Carnitine palmitoyltransferase II deficiency 1 in 50-70
PAH Phenylketonuria 1 in 50-80
HBB Beta-thalassemia 1 in 60-80
GALT Galactosemia 1 in 60-90
G6PC Glycogen storage disease type Ia 1 in 64
FAH Tyrosinemia type I 1 in 66-125
BCKDHA, BCKDHB Maple syrup urine disease 1 in 68-81
HOGA1 Primary hyperoxaluria type 3 1 in 70-133
MSH2 Lynch syndrome (hereditary nonpolyposis colorectal cancer) 1 in 75
MCOLN1 Mucolipidosis type IV 1 in 80-100
SMPD1 Niemann-Pick disease types A and B 1 in 80-100
FMR1 Fragile X syndrome 1 in 80-100
COL4A3 Alport syndrome 1 in 83-153
RTEL1 Dyskeratosis congenita 1 in 85-110
HPS3 Hermansky-Pudlak syndrome type 3 1 in 86
FANCC Fanconi anemia type C 1 in 89-100
PMM2 Congenital disorder of glycosylation type Ia 1 in 89
ATP7B Wilson disease 1 in 90
DNAH5, DNAI1, DNAI2 Primary ciliary dyskinesia 1 in 90-100
TMEM216 Joubert syndrome 1 in 92-100
BBS2 Bardet-Biedl syndrome 1 in 100
HBA1, HBA2 Alpha-thalassemia 1 in 100
BLM Bloom syndrome (increased risk for multiple cancers) 1 in 100-120
DHDDS Retinitis pigmentosa 59 1 in 100-134
GBE1 Glycogen storage disease type IV 1 in 100-130
PEX2 Zellweger syndrome spectrum 1 in 100-150
FAM161A Retinitis pigmentosa 28 1 in 100-150
GAA Pompe disease 1 in 100-170
PFKM Glycogen storage disease type VII (Tarui disease) 1 in 104
DLD Dihydrolipoamide dehydrogenase deficiency (E3 deficiency) 1 in 107
NDUFS6 Mitochondrial complex I deficiency 1 in 108
NEB Nemaline myopathy 1 in 108-168
PKHD1 Autosomal recessive polycystic kidney disease 1 in 110-140
CLRN1 Usher syndrome type III 1 in 120
VRK1 Pontocerebellar hypoplasia 1 in 128-150
PCDH15 Usher syndrome type 1F 1 in 147
PHGDH Phosphoglycerate dehydrogenase deficiency 1 in 150
TCIRG1 Osteopetrosis 1 in 165-200
CHEK2 Li-Fraumeni syndrome variant (increased risk for multiple cancers) 1 in 200 (specific variants)
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type Rare
FKTN Walker-Warburg syndrome Rare
LOXHD1 Nonsyndromic hearing loss Rare
MPL Congenital amegakaryocytic thrombocytopenia Rare
MTTP Abetalipoproteinemia Rare
NR2E3 Enhanced S-cone syndrome Rare
SLC35A3 Congenital disorder of glycosylation type IIf Rare
SUMF1 Multiple sulfatase deficiency Rare
VPS13A Chorea-acanthocytosis Rare
MLH1 Lynch syndrome (hereditary nonpolyposis colorectal cancer) Rare in Ashkenazi population
PMS2 Lynch syndrome (hereditary nonpolyposis colorectal cancer) Rare in Ashkenazi population

Table of contents

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Disclaimer! The information provided in this article is for educational purposes only and is based on NHS recommendations. It is not a substitute for professional medical advice. Always consult your doctor or a qualified healthcare provider for advice on medical conditions or treatments.

What are BRCA1 and BRCA2?

BRCA1 and BRCA2 are genes that help repair damaged DNA and keep cells growing normally. Everyone has these genes, but some people inherit changes (mutations) in BRCA1 or BRCA2 that stop them working properly. When this happens, the risk of developing certain cancers, particularly breast, ovarian, prostate, and pancreatic cancers, can increase significantly.

Inherited BRCA mutations can be passed down from either the mother’s or the father’s side of the family. Knowing if you carry a BRCA1 or BRCA2 mutation can help you take proactive steps to manage your cancer risk, with options for early monitoring, preventative treatments, or lifestyle changes.

Should I Consider BRCA Genetic Testing?

You might want to consider BRCA testing if you have a family history of breast, ovarian, prostate, or pancreatic cancer, particularly if relatives were diagnosed at a young age (under 50). If you have multiple close relatives affected, or if there is a known BRCA mutation in your family, testing may provide important information for your health and your family's.

Certain groups, such as people of Ashkenazi Jewish descent, are also at a higher risk of carrying BRCA mutations — around 1 in 40, compared to 1 in 400 in the general population. Overall, carrying a BRCA1 or BRCA2 mutation can mean up to a 70% lifetime risk of breast cancer and up to a 44% risk of ovarian cancer. Understanding your genetic risk can open the door to personalised care and prevention options.

What causes BRCA1 and BRCA2 Mutations?

BRCA mutations are inherited — meaning they are passed down through families. If one of your parents carries a BRCA mutation, there is a 50% chance you could inherit it. While these mutations increase cancer risk, they are relatively rare in the general population.

Testing for BRCA1 and BRCA2 mutations can identify if you have inherited one of these changes. If detected, it allows you and your healthcare team to develop a personalised plan for regular screening, preventative measures, and possible treatments.

How is Risk Managed If You Have a BRCA Mutation?

If you test positive for a BRCA mutation, there are many options to help manage your risk. These might include more frequent screening (such as annual mammograms and MRI scans from a younger age), preventative surgeries (like risk-reducing mastectomy or removal of the ovaries and fallopian tubes), and medications that can lower your risk.

Your care team, including genetic counsellors and specialists, will work closely with you to create a personalised plan based on your individual risk and preferences — supporting you every step of the way.

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Type of Cancers

Type of Cancers

Type of Cancers

We offer expert advice and testing for a range of genes that may increase your risk of developing certain types of cancer.

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Other Testing Options

Genetic testing helps assess your cancer risk - explore the diagnostic tests we offer for a range of cancers

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