TEST CODE: 008852

DIAGNOSTIC TEST FOR: SINGLE & MULTI GENE ANALYSIS

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

Single & Multi-Gene Analysis

A single gene analysis is typically performed where a patient has presented with specific features or clinical symptoms of a condition, or where there is a family history of the condition. Genomed can perform single gene analysis using our custom designed panels, to identify changes or variants in a single gene. Many genetic conditions are caused by variants in a single gene, and these are known as single gene disorders. The analysis required for each disorder will depend on the number of genes commonly associated with that disorder.

We can also utilise our multi-gene panels where clinical symptoms may not necessarily correspond to one particular disorder, or to test for disorders that are commonly associated with more than one gene. We offer a range of multi-gene panels, including panels specifically designed for cardiovascular disorders and neurological disorders, and multi-gene panels targeted to inherited disorders such as Stickler Syndrome, Ehlers-Danlos Syndrome, Noonan Syndrome and Alport Syndrome.

Our test menu includes more than 3,900 single genes representing all our 14 categories. All genes are clinically highly relevant and selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer single gene testing always as Plus analysis (a combination of Sequencing & Del/Dup). The genes of our Single gene list have a high quality with 20 x coverage with 99,5% sensitivity.  Some common inherited disorders we test for include:

Cystic Fibrosis

Cystic fibrosis (CF) is an inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. The CFTR gene helps to regulate the flow of salt and water into and out of cells in our body. It plays an important role in the production of sputum (mucus), sweat and other digestive fluids. If have a history of CF in your family, a partner with CF (or a family history of it), or a child with the condition, you may choose to get carrier testing. A simple blood test can determine if you are a carrier of the faulty gene that causes cystic fibrosis.

BRCA – Hereditary Breast and Ovarian Cancer

5 – 10% of breast cancers are attributable to BRCA1 or BRCA2 mutations. These mutations can be sporadic, but they are often germline, which means they are in all cells in your body and have the possibility to be passed down to your children. The incidence of breast cancer in individuals with BRCA1 or BRCA2 germline mutations is 20 – 30 times higher than those without the mutations. Our BRCA Plus Panel can identify BRCA1 or BRCA2 variants and determine whether they are of germline origin. If germline mutations are detected, family members can also be tested to see if they have inherited the increased risk for Breast cancer, enabling earlier detection and prevention in family members.

Wilson Disease

Wilson disease is a single gene disorder caused by defects in the copper-transporting P-type ATPase gene – ATP7B.  ATP7B gene mutations lead to a loss of biliary secretions of copper, resulting in overloading of this metal in various organs such as the liver, basal ganglia, and cornea. ATP7B is the only causative gene for Wilson disease, and more than 95% of patients carry mutations in this gene. We have a custom designed panel for detecting ATP7B mutations.

Noonan Syndrome

Noonan Syndrome can affect many different areas of the body, and is typically characterised by unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations. Our Noonan Syndrome assay assesses 14 genes known to be related to this disorder: A2ML1, BRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1, RIT1, SHOC2, SOS1, SPRED1.

Vitreoretinopathy and Stickler Syndrome Panel

Our specially designed panel covers the coding region of 20 genes known to harbor mutations associated with inherited Vitreoretinopathy, Stickler syndrome and/or other impairments of vision. The following genes are included on the panel: ATOH7, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, COL9A3, CTNNB1, FZD4, GZF1, KCNJ13, KIF11, LRP5, NDP, NR2E3, TSPAN12, VCAN, ZNF408

Alport Syndrome Panel

Alport syndrome is a genetic condition characterised by kidney disease, hearing loss, and eye abnormalities, cause by pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes. Our Alport Syndrome Panels targets the coding regions of the COL4A3, COL4A4, and COL4A5 genes. A Medicare Rebate may be available for this testing, please contact us for more information.

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome (EDS) is a connective tissue disorder characterised by skin hyperextensibility, abnormal wound healing, and joint hypermobility. Vascular Ehlers-Danlos Syndrome (vEDS) is characterised by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. [6] Diagnosis of vEDS is typically based on clinical symptoms and confirmed by identification of a heterozygous pathogenic variant in COL3A1 through DNA sequencing.

Our Connective Tissue Laxity (CTL) panel targets the coding region of 18 genes known to harbour mutations associated with inherited connective tissue disorders, including Vascular Ehlers-Danlos Syndrome. The following genes are included on the panel: ACTA2, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FBN1, FBN2, MYLK, MYH11, PRKG1, PLOD1, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2.

Polycystic Kidney Disease

Polycystic Kidney Disease is a disorder that affects mainly the kidneys. Polycystic Kidney Disease is typically characterized by cysts that develop in the kidneys and interfere with their ability to filter waste products from the blood.  Cysts can also develop in other organs, including the liver and pancreas.  Autosomal dominant polycystic kidney disease is the most common form of Polycystic Kidney Disease, with symptoms that tend to develop in adulthood. 1 Mutations in the PKD1 gene account for ~85% of Autosomal dominant polycystic kidney disease and PKD2 mutations for ~15%. The PKHD gene is also known to cause Polycystic Kidney Disease. The following genes are included on our PKD panel: ANKS6, HNF1B, JAG1, LRP5, NOTCH2, NPHP1, NPHP3, PKD1, PKD2, PKHD1, PPARG, PRKCSH, SEC63, SRC, TSC2, UMOD.

Familial Hypercholesterolemia

Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. Mutations in the APOB, LDLR, LDLRAP1, or PCSK9 gene may cause familial hypercholesterolemia. Changes in the LDLR gene are the most common cause of this condition. The following genes are included on our Familial hypercholesterolemia panel: APOB, CETP, LDLR, LDLRAP1, LIPA, PCSK9, SLCO1B1. A Medicare Rebate may be available for this testing, please contact us for more information.

Testing for Other Genes & Disorders

Our test menu includes more than 3,900 single genes representing all our 14 categories. All genes are clinically highly relevant and selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer single gene testing always as Plus analysis (a combination of Sequencing & Del/Dup). The genes of our Single gene list have a high quality with 20 x coverage with 99,5% sensitivity.

The great majority of tests are completed within 28 days.

The genes have been selected based on following criteria:

– Addition of well-known disease genes on utilizing both curated gene reviews and variant databases

– Identification of new disease-causing genes from most recent literature and databases

– Customer requests

– We have been balancing the clinical utility to include the most relevant genes, however excluding all preliminary genes

Please contact us for the complete list of our single and multi genes test analysis.