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Hereditary Disease Testing

Find Out More

Hereditary Disease Testing

Find Out More

Test Overview

DNA contains the instructions for making the proteins that our bodies are made from. Our genetic tests will determine if you carry DNA faults that could place you or your family members at risk of developing certain conditions.

What do we test for?

(Click on the icon to find out more)

Cardiovascular
Diseases

(Genes)

Connective Tissue
Diseases

(Genes)

Metabolic
Diseases

(Genes)

Neuromuscular
Diseases

(Genes)

Which Genes Do We Analyse for This Test?

Cardiovascular diseases

Arrhythmogenic right-ventricular cardiomyopathy

Gene(s) tested:

PKP2, DSP, DSC2, TMEM43, DSG2

Catecholaminergic polymorphic ventricular tachycardia

Gene(s) tested:

RYR2

Hypertrophic cardiomyopathy, dilated cardiomyopathy

Gene(s) tested:

MYBPC3, MYH7, TNNT2, TNNI2, TPM1, MYL3, ACTC1, PRKAG2, GLA, MYL2, LMNA

Romano-Ward long QT syndrome

(Types 1,2, and 3 Brugada syndrome)

Gene(s) tested:

KCNQ1, KCNH2, SCN5A

Connective tissue diseases

Marfan syndrome, Loeys-Dietz syndromes

(Inc. familial thoracic aortic aneurysms and dissections)

Gene(s) tested:

FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYH11

Ehlers-Danlos syndrome, vascular type

Gene(s) tested:

COL3A1

Metabolic diseases

Familial hypercholesterolemia

Gene(s) tested:

LDLR, APOB, PCSK9

Ornithine transcarbamylase deficiency

Gene(s) tested:

OTC

Wilson disease

Gene(s) tested:

ATP7B

Neuromuscular diseases

Malignant hyperthermia

Gene(s) tested:

RYR1, CACNA1S

“I’d not received any drastically bad news but there were some elements I should be aware of as I age and some markers that mean I should continue to have regular health checks”

 

– Anonymous

"90 minutes later I emerged out of Elite Medicine’s doors onto Harley Street, armed with my personal report and a determination to lead a healthier life."

 

– Charles Johnson

“The whole process of the testing had been remarkably easy – and I found the knowledge I gained both before the test and after it, truly fascinating. The doctors take huge care to ensure they have a full history and discuss any elements of your health that you find worrisome”

 

– Anonymous

“In my mind it is always so much better to be forewarned. Knowledge is, as they say, power”

 

– Anonymous

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