Genomics Precision Diagnostic > Nephrology

Nephrology

Alport syndrome gene panel

Overview
Indications
Genes & Associated Diseases

Alport syndrome is a genetic condition that leads to kidney disease, hearing loss and eye anomalies. Individuals with this condition lose function in their kidneys due to variants in the genes that are associated with an important protein in the kidney called type IV collagen. Problems with this protein also affect the inner ear and the eye. Alport syndrome can be inherited in an autosomal dominant, autosomal recessive and X-linked manner depending on the specific genetic mutation present.
Specialities involved: Nephrology, ophthalmology, ENT

Blood in the urine
Abnormally colored eyes
Hearing loss
Inner ear anomalies

Alport Syndrome

For More Information Call our Geneticist: 80050342

Bartter syndrome gene panel

Overview
Indications
Genes & Associated Diseases

Bartter syndrome is a group of closely related kidney disorders that arise from an imbalance in of potassiom, chloride, sodium and similar molecules in the body. This condition usually manifests while the female is pregnant (before the birth of the affected individual) and results in an increase of amniotic fluid around the fetus. There are two forms of Bartter syndrome that depend on the age of onset of symptoms, individuals can present with symptoms either before birth (antenatally) or in early childhood. The symptoms of this syndrome can be dependent on which genes are affected and which molecules have an imbalance in the body. this condition is inherited in an autosomal recessive manner.
Specialities involved: Nephrology, ENT, OBGYN,

Low amniotic fluid
Failure to grow
Dehydration
Increased urine production
Weakness, weak bones
Inner ear anomalies

Bartter Syndrome

For More Information Call our Geneticist: 800 50342

Meckel Gruber syndrome gene panel

Overview
Genes & Associated Diseases

Coming Soon

For More Information Call our Geneticist: 800 50342

Nephrotic syndrome gene panel

Overview
Indications
Genes & Associated Diseases

Nephrotic syndrom is a set of conditions that cause the body to pass too much protein in the urine and not enough in the blood because of malformations in the filters of the kidney. This causes several complications including heart disease, high cholesterol and blood pressure, anemia and kidney failure. Disorders in this syndrome often occur within the first few months of life and could be inherited or aquired. Hereditary forms of Nephrotic syndrome are inherited in an autosomal dominant or autosomal recessive manner.
Specialties involved: Nephrology, cardiology

High protein levels in the urine
Low protein levels in the blood
Swelling
Weight gain
High cholesterol

Nephrotic Syndrome

For More Information Call our Geneticist: 800 50342

Polycystic kidney disease gene panel

Overview
Indications
Genes & Associated Diseases

Polycystic Kidney Disease (PKD) is an inherited condition that is associated with cysts on the kidneys that cause swelling and eventual loss of function. The symtpoms and severity of PKD differ from patient to patient, the size of the cysts can vary and cysts can develop on the liver and organs. PKD can be inherited in an autosomal dominant or autosomal recessive manner. Autosomal dominant PKD usually presents in adulthood but signs and symptoms can be present in children. Autosomal recessive PKD usually presents at birth,infancy or early childhood and is the rarer and more sever from of PKD
Specialties involved: Nephrology, cardiology, hepatology

High blood pressure
Back and side pain
Enlarged abdomen and kidneys
Kidney stones
Kidney failure
Infection in the kidneys or urinary tract

Polycystic kidney disease

For More Information Call our Geneticist: 800 50342

Primary hyperoxaluria gene panel

Overview
Indications
Genes & Associated Diseases

Primary hyperoxaluria is an inherited condition that is caused by reccurent kidney stones leading to eventual end stage renal disease (ESRD).

Coming Soon

Primary hyperoxaluria type III (PH III)
Primary hyperoxaluria type II (PH II)
Primary hyperoxaluria type I (PH I)

For More Information Call our Geneticist: 800 50342

Ciliopathy gene panel

Overview
Genes & Associated Diseases

Coming Soon

For More Information Call our Geneticist: 800 50342

Sample Requirements

For genetic testing through next generation sequencing, the following sample types are accepted. A thorough labelling of the tube with unique identifying information is suggested, incorrect labelling can lead to rejection of the sample. The minimum required information to identify and accept a sample is – Patient’s full name, Date of birth, Gender and Medical Record Number.

Maternal blood sample must be sent with all products of conception, CVS and Amnio samples.
Precedence will be given to all prenatal samples.

The ‘informed consent’ form and the ‘test requisition from’ (included within the provided kit) must be properly filled-in and signed by the patient and sent with the samples inside the shipping box or by e-mail to the laboratory. Igenomix will send you all the documents needed for the pick-up and transportation of the appropriate kit to our laboratory

Methodology

Limitations

The probes used for this test are designed to detect known genes in the curated panel. Therefore, this test is unable to detect genes not defined by the NCBI reference genome GRCh37 or non-human genome sequences including viral sequences or non-nuclear DNA that are designated in the specific panel.

In addition, due to the limitations of NGS technologies, the following variants cannot be readily detected: large deletions/duplications greater than 40 base pairs, copy number variations, homopolymer stretches, variants in pseudogene regions, gene fusions, balanced translocations, inversions, ploidy changes, uniparental disomy, and repeat expansion regions.

Furthermore, variants present outside the exons (non-coding region) could be missed; these variants can affect gene activity and protein production which may lead to genetic disorders. This technique does not cover the entire exome, (the % of bases with coverage above 20x is approximately 97%). It may not be possible to resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity.

Analytical limitations may also occur due to the provided clinician information. Accurate and thorough clinical information of the patient(s) and family members is required as incomplete information may lead to false positive or negative results

This list of indications and symptoms is not necessarily a comprehensive list and only covers common symptoms associated with disease, signs and symptoms should be discussed with your physician. If you feel like you are affected by one or more of these syndromes visit a doctor immediately. The information presented in this site is not meant to diagnose any medical or genetic condition rather give an overview of the panels presented and offer guidance as to which panel is most appropriate. The associated diseases listed are not necessarily a comprehensive list – more diseases may be added to this list as new information about the disease and the genes associated with these diseases and panels arises

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