TEST CODE: 008837

DIAGNOSTIC TEST FOR: NEPHROLOGY

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Genetic testing for Nephrology

Our panels include over 3,900 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.

Inherited renal diseases are estimated to cause 50% of pediatric chronic renal failure (CRF) and 20% of adult CRF. Many kidney disorders lead to end-stage renal disease (ESRD) – permanent failure of the kidneys that requires kidney transplant. A significant proportion of patients with nephrotic syndrome (NS) suffer from so-called steroidresistant NS. For these patients, prognosis is poor, as 30–40% develop ESRD requiring dialysis and transplantation.

What genetic diagnostics can be offered to patients with Nephrological diseases?

Genetic causes of kidney diseases include a number of single-gene disorders, a variety of chromosomal abnormalities, and many multifactorial disorders. A genetic cause may be suspected from known family history or the simultaneous occurrence of other medical problems, but in many cases disease presentation is unexpected.

An accurate genetic diagnosis is key for optimizing treatment and identifying other manifestations of the syndrome for which a patient should be screened. Establishing the underlying genetic defect and inheritance pattern also allows family member testing to identify at-risk relatives.

Additionally, for patients with NS, ineffective treatment with steroids and other immunosuppressive drugs can be avoided through genetic testing. Identification of causative mutations can also be used in prognostics, as post-transplant recurrence is generally high, but for patients with a genetic origin of the disease, recurrence is almost unheard of.

What are the benefits of genetic testing?

Genetic testing produces information that may help you or your healthcare provider:

– establish or confirm your specific diagnosis 


– provide an explanation of the underlying cause 
of your heart condition

– uncover potential risk of developing an underlying, multi-system condition that affects more than your heart 


– make informed medical decisions and provide an opportunity to start risk reduction strategies 


– identify other at-risk relatives for whom genetic testing is recommended 


– make informed family planning decisions 


Genomed's Metabolic disorder panels

CLINICAL AREA: PEDIATRIC AND RARE DISEASE

CILIOPATHIES

– Ciliopathies Panel

– Skeletal Ciliopathies Panel

– Primary Ciliary Dyskinesia Panel

– Bardet-Biedl Syndrome Panel

– Joubert and Meckel-Gruber Syndromes Panel

– Nephronophthisis Panel

– Oral-Facial-Digital Syndrome Type 1 Test

– Polycystic Kidney Disease Type 2 Panel

– Senior-Loken Syndrome Panel

NEPHROLITHIASIS

– Nephrolithiasis Panel

PROGRESSIVE RENAL DISEASE

– Progressive Renal Disease Panel

Please contact us for the complete list of genes included on the multi-Nnephrology panel and associated conditions.

What are the potential results?

A POSITIVE TEST RESULT CAN:

If testing identifies a variant associated with heart disease, consult with your healthcare provider to create a management plan and to identify relatives who may need to be tested.

A NEGATIVE TEST RESULT:

If testing identifies no variants associated with a hereditary heart disease, the underlying cause of your heart condition remains unknown. As our knowledge of genetics improves, additional genetic testing may become available.

AN UNCERTAIN VARIANT TEST RESULT:

In some cases, testing can identify a variant, but it is not known at this time whether the variant is associated with heart disease. If new information about your family history of heart conditions becomes available, this could change what your test results mean for you and your relatives. Always let your healthcare provider know if there are any updates regarding your family medical history.

Take action based on your result.

With Genomed, you can make health decisions based on your results. Our medical-grade tests are the same tests used by doctors and genetic counselors. Based on your results, you can work with your healthcare provider to consider:

– increased or earlier screenings

– lifestyle modifications

– early intervention to prevent the onset of disease