DNA analysis reports

Geneyx Tests

Better monetization for your lab’s genetic data!

More revenue opportunities with ‘Off the shelf’ Genetic applications 

Newmarket opportunities can be immediately addressed using our numerous off-the-shelf CLIA/CAP-clinically ready tests and reports with a click of a button, that is fully white-labelled for your organization. Maximize your existing genetic data by providing valuable, actionable findings to your customers with previously sequenced samples. Geneyx makes it easy to identify new opportunities for genetic tests, which allows you to generate more revenues with higher margins.            

Highlights of the Geneyx predefined tests                                                                          

Harness our powerful cloud-based data storage and genome engine to perform singleton, trio, or population-based analysis. Select from numerous CLIA/CAP accredited tests/reports with a click of a button! No additional set-up, validation, or work required to offer these tests/reports “right off the shelf”. Convert your research samples to clinical tests/reports in a matter of minutes and provide valuable actionable findings to the test subjects of your previously sequenced samples. Drive untapped sources of revenue to your lab, or organization with these CLIA/CAP clinical ready tests/reports.

Select from our comprehensive portfolio of tests:

Test Item
DNA UNLOCKED® Comprehensive Screening            
Carrier Screening                             
Cancer Predisposition 
Nutrition & Fitness 
Substance Use Disorders (SUD
Cardiovascular Disease (CVD) Screening 
Neurological Genetics Screening 
Ophthalmological Genetics Screening
Dermatological Genetics Screening
Renal & Genitourinary Genetics Screening
Price List
References

 

DNA UNLOCKED® Comprehensive Screening

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray or 

Whole Genome Sequencing (WGS)

Description:

With today’s technology we are entering an age of genomics, big data, and precision medicine. By sequencing vital regions of the genome or the entire genome of a person, preventive strategies or targeted treatment and management strategies can be applied to improve the health state of the test subject with implications for the family as well. The DNA UNLOCKED® Comprehensive Screening test is indicated for all individuals who would like to gain insights about their carrier status, predisposition status or affected status for a large number of conditions with a genetic basis, wellness insights, medication response and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder. This test is most appropriate for patients with undiagnosed conditions for which a genetic etiology is suspected and who have had a clinical genetics evaluation with negative test results for chromosome microarray and/or other targeted sequencing tests. WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome.  Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

Microarray allows for the genotyping of specific variations or polymorphisms associated with various conditions or traits in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  

 

Whole genome sequencing (WGS) allows for sequencing of the entire genome of an individual. It is different from WES in that there is not a targeting step included before the sequencing enabling more uniform sequence coverage throughout the genome and in 

difficult to sequence regions of the genome. WGS analyzes the protein-coding regions of 

the genome but may include regulatory regions or deep intronic regions and microRNAs and may detect cryptic chromosome rearrangements such as translocations and inversions. WGS is most appropriate for patients who have received a negative WES result when a genetic disease etiology is strongly suspected.

Indications: 

Indications for this test and analysis service is broad and depends on the needs of the patient. Generally, this test is considered a screening test, but can be used as a diagnostic aid to support or rule out a diagnosis if there is involvement of a healthcare provider and clinical judgement or confirmatory testing is performed. Some of the indications for using this test include:  

  • General health screening (i.e. Proactive patient directed/self-exploratory screening for informational or preventive reasons) 
  • Pre-conception carrier screening (for reproductive planning prior to pregnancy)
  • Cancer predispositions/risks (especially if strong family history of cancer) 
  • Screening based on signs/symptoms and medical history or to help confirm a diagnosis
  • Screening based on family history of a certain disease/condition
  • Carrier or affected status for diseases recommended for screening by ACMGG (American College of Medical Genetics and Genomics)
  • Carrier or affected status for other rare or severe disease (both early-onset or late-onset)
  • Predisposition/risk for certain chronic diseases


Ordering:

CATALOG NUMBER:1100101, 1100001, 1100201
TURNAROUND TIME:4-8 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Carrier Screening

Test Information Sheet

Whole Exome Sequencing (WES), MLPA, PCR Amplification

Description:

Pre-conception carrier screening has been a widely adopted method over the years to determine a couple’s risk of having an affected child of certain autosomal recessive and X-linked disorders. Improvements in technology and scientific knowledge has allowed for more expanded carrier screening with greater detection rates of mutations for various populations. The Carrier Screening test analyzes and interprets 356 genes to give the test subject insights about their carrier status for diseases that are severe and/or debilitating (Table 1). With this knowledge he or she and the healthcare providers involved in their care could personalize their reproductive management plan to better prepare for and potentially prevent diseases in their future children.  

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals who wish to have children to determine their carrier status of disease and determine their pregnancy risk of having an affected child. WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different to determine their carrier status of potentially pathogenic, or likely pathogenic variants. Ideally, this test is performed by sequencing the patient and his or her partner together to accurately identify the  inherited variants for diseases of autosomal recessive inheritance or X-linked inheritance in females and thus their pregnancy risk of having an affected child. 

*Fragile X CGG Repeat Analysis of the FMR1 gene is performed by PCR amplification using Asuragen, Inc. AmplideX® FMR1 PCR reagents followed by capillary electrophoresis for allele sizing is performed. Analysis of FMR1 is performed in association with sequencing of the coding regions.

*Spinal Muscular Atrophy (SMA) testing analyzes the copy numbers of the SMN1 and SMN2 genes using the Multiplex Ligation-Dependent Probe Amplification (MLPA) method. The individual dosage of exons 7 and 8 as well as the combined dosage of exons 1, 4, 6 and 8 of SMN1 and SMN2 are assessed. Copy number gains and losses can be detected with this assay. Depending on ethnicity, 6 – 29 % of carriers will not be identified by dosage sensitive methods as this testing cannot detect individuals with two copies (duplication) of the SMN1 gene on one chromosome and loss of SMN1 (deletion) on the other chromosome (silent 2+0 carrier) or individuals that carry an intragenic mutation in SMN1. Please also note that 2% of  individuals with SMA have an SMN1 mutation that occurred de novo. Typically, in these cases, only one parent is an SMA carrier. Analysis of SMN1 is performed in association with sequencing of the coding regions.

*Duchenne Muscular Dystrophy (DMD) testing is done by Multiplex Ligation-Dependent Probe Amplification (MLPA) to analyze the copy numbers of all DMD exons. Potentially pathogenic single exon deletions and duplications are confirmed by a second method. Analysis of DMD is performed in association with sequencing of the coding regions.

*Please note: these test methods are optional and can be included as part of the Carrier Screening as an add-on at an additional cost.


Ordering:

CATALOG NUMBER:1100104, 1100004, 1100204
TURNAROUND TIME:2-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Cancer Predisposition Screening

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

Cancer is a disease in which abnormal cells divide uncontrollably driven by mutations in the cell’s DNA and destroy body tissue. Cancer can be an isolated tumor or can be metastatic and spread from the originating tissue affecting multiple organs. If not diagnosed early cancer can be at a later progressive stage and can be difficult to treat. It is now known that about 5-10% of all cancers (depending on the cancer type or origin) are inherited (i.e. an individual who is a carrier of a cancer-causing mutation/variant can be predisposed to cancer in his or her lifetime). The Cancer Predisposition Screening test is indicated for all individuals who would like to gain insights about their carrier status or predisposition status for cancer-related conditions (i.e. disease-causing or disease-associated variants that may increase the risk of cancer), and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing monitoring program, lifestyle modifications or treatments to prevent or better manage these inherited cancer disorders. 

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain cancer related conditions who would like to be screened for their cancer predisposition or risk (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

Microarray allows for the genotyping of specific variations or polymorphisms associated with cancer predisposition conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  

 

Ordering:

CATALOG NUMBER:1100110, 1100010, 1100210
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Personalized Nutrition & Fitness

Test Information Sheet

Microarray

Description:

Today we are learning more and more about the interaction of our diet, exercise, and other lifestyle habits with our genetics and how it may affect our health and wellness. With the Personalized Nutrition & Fitness Genome test, we analyzed and interpret vital parts of an individual’s genome to give insights about their nutrition and fitness traits, as well as some additional traits and ancestry. With this knowledge the test subject and his or her healthcare providers, dieticians/nutritionists or fitness trainers could personalize their diet or fitness routine.

Microarray allows for the genotyping of specific variations or polymorphisms associated with cardiovascular conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  

 

Table 1 – List of traits Included in the test 

Category/SectionTraits
Nutrition

Cardiometabolic Health

  • Caffeine Metabolism
  • Type 2 Diabetes Risk / Whole Grains & Fiber Benefits
  • Omega-3 and Omega-6 Levels

Food Reactions & Taste Perception

  • Lactose Intolerance
  • Bitter Taste Perception

Nutritional Needs & Nutrition Metabolism

  • Vitamin B2 (Riboflavin)
  • Vitamin B12 (Cobalamin)
  • Vitamin C (Ascorbic Acid)
Fitness
  • Exercise Behavior
  • Power and Strength
  • Endurance / Endurance Training
  • Pain Sensitivity
  • Achilles Tendon Injury / Tendinopathy
  • Muscle Fatigue & Cramping
  • Aerobic Capacity (VO2max)
  • Blood Pressure Response to Exercise
  • Weight – BMI Response to Exercise
Additional Traits
  • Wet vs. Dry Earwax, Sweating and Body Odor
  • Hair Loss and Baldness (Androgenic Alopecia)
  • Dental Caries
  • Sleep Depth (Deep Sleep)
Ancestry Genetics (optional)

Family ancestry

  • Discover the percentage breakdown of your origins
  • Connect with your autosomal DNA relatives within the last 5 generations
  • Learn if you have a connection with ancient European groups
  • Compare matching segments of DNA (blocks) with your genetic matches

Ordering:

CATALOG NUMBER:1100113, 1100013
TURNAROUND TIME:2-4 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Substance Use Disorders (SUD) &                 Preventive Health Screening

Test Information Sheet

Whole Exome Sequencing (WES), Microarray and 

Specialized SUD (Substance Use Disorders) Assay

Description:

According to the DSM-5, a “substance use disorder describes a problematic pattern of using alcohol or another substance that results in impairment in daily life or noticeable distress.” The Substance Use Disorders & Preventive Health Screening test is indicated for all individuals who would like to gain insights about their carrier status or predisposition status for substance use disorders, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and substance use rehabilitation management plan by implementing lifestyle modifications or treatments to prevent these disorders or improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for generally healthy individuals or those with a family history of certain medical conditions who would like to be screened for the ACMG recommended actionable conditions for prevention purposes. WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray and Specialized Substance Use Disorders Assay allows for the genotyping of specific variations or polymorphisms associated with substance use or addiction disorders in the genome of an individual (Table 1). It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100116, 1100016
TURNAROUND TIME:2-4 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Cardiovascular Disease (CVD) Screening

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

Cardiovascular disease (CVD) is a leading health problem and encompasses a broad range of disorders including diseases of the vasculature, the myocardium, the heart’s electrical circuit, and congenital heart disease. For nearly all of these disorders, inherited DNA sequence variants play a role in conferring risk for disease. The Cardiovascular Disease Screening test is indicated for all individuals who would like to gain insights about their carrier status or predisposition status for cardiovascular conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain cardiovascular conditions who would like to be screened for cardiovascular conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray allows for the genotyping of specific variations or polymorphisms associated with cardiovascular conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100120, 1100020, 1100220
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Neurological Genetics Screening

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

A neurological disorder is any medical problem that affects the nervous system that includes your brain, spinal cord, and other nerves. Problems with the structure or function of any part of the nervous system can lead to a neurological disorder. One of the causes of neurological disorders include changes in our genes which can be de novo or inherited. The Neurological Genetics Screening test is indicated for all individuals who would like to gain insights about their carrier status, predisposition status or affected status for neurological conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain neurological conditions who would like to be screened for neurological conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray allows for the genotyping of specific variations or polymorphisms associated with neurological conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100123, 1100023, 1100223
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Ophthalmological Genetics Screening 

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

Genetic testing for ophthalmological or eye disorders is becoming an increasingly useful diagnostic tool, especially considering the promising developments in gene therapy in this field. Many genes are involved in the complex process of normal eye development and function. When pathogenic variants or mutations occur in these genes, a serious eye disease can result. The Ophthalmological Genetics Screening test is indicated for all individuals who would like to gain insights about their carrier status, predisposition status or affected status for ophthalmological conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain ophthalmological conditions who would like to be screened for ophthalmological conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray allows for the genotyping of specific variations or polymorphisms associated with ophthalmological conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100126, 1100026, 1100226
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Dermatological Genetics Screening 

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

Some genetic diseases impact the dermis or skin. Dermatological problems may range from minor to extremely complex and can be inherited. The Dermatological Genetics Screening test is indicated for all individuals who would like to gain insights about their carrier status, predisposition status or affected status for dermatological conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain dermatological conditions who would like to be screened for dermatological conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray allows for the genotyping of specific variations or polymorphisms associated with dermatological conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100129, 1100029, 1100229
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

Renal & Genitourinary Genetics Screening

Test Information Sheet

Whole Exome Sequencing (WES) and Microarray

Description:

Inherited or genetic renal or kidney disease affects around 10% of adults with end-stage kidney disease and up to 70% of children with early onset kidney disease. The urinary tract comprises the renal pelvis, the ureter, the urinary bladder, and the urethra. Congenital diseases of these structures with a genetic basis can lead to a range of diseases sometimes associated with fetal losses or kidney failure in childhood and later in life. A definitive diagnosis through genomic testing may negate the need for prolonged diagnostic investigations and surveillance, facilitate reproductive planning and provide accurate counselling for at-risk relatives. The Renal & Genitourinary Genetics Screening test is indicated for all individuals who would like to gain insights about their carrier status, predisposition status or affected status for renal & genitourinary conditions with a genetic basis, and other health risks recommended for screening by the ACMG. With this knowledge the test subject and his or her healthcare providers and counselors could personalize their health and medical management plan by implementing lifestyle modifications or treatments to prevent or better manage these disorders and improve the test subject’s current health state.

Whole exome sequencing (WES) can be used to analyze most of the genes in an individual at one time to identify the mutation(s) that are causing a genetic disorder or for health screening purposes. This test is most appropriate for individuals with a medical history or those with a family history of certain renal & genitourinary  conditions who would like to be screened for renal & genitourinary  conditions (Table 1) and for the ACMG recommended actionable conditions for diagnostic and/or prevention purposes (Table 2). WES targets the protein-coding regions of the genome, which represents approximately 20,000 genes and about 2% of the genome. Individual exons of each gene are initially captured or separated from the rest of the genome and analyzed using massively parallel sequencing. The patient’s sequence is then compared to the reference genome sequence to identify variants that are different and are therefore, potentially causative in the patient’s condition. Ideally, this test is performed by sequencing the patient and both parents (trios) together to identify de novo variants, assign phase to inherited variants for autosomal recessive inheritance or to determine autosomal dominant or X-linked inheritance. However, depending upon the availability of the parents, other family members may also be utilized to maximize the chance of identifying causative variants in the patient.  

 

Microarray allows for the genotyping of specific variations or polymorphisms associated with renal & genitourinary conditions in the genome of an individual. It is different from WES in that specific variants are targeted either within the protein-coding regions or in the non-coding regions of the genome.  


Ordering:

CATALOG NUMBER:1100132, 1100032, 1100232
TURNAROUND TIME:3-5 weeks
PREFERRED SPECIMEN:Buccal swab
ALTERNATIVE SPECIMEN:

Extracted DNA: 20ul of 50ng/ul, OD260/OD280 ~ 1.8, include details of extraction method with samples

Blood: 3-5cc drawn in EDTA (purple-top) tube

 

 

References

  1. Bamshad et al. (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nature Reviews Genetics. 12:745-755.
  2. Clark MM et al. (2018) Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018 Jul 9;3:16. 
  3. Green RC, Berg JS, Grody WW, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med, 2013; 15(7):565-574.
  4. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet Med, 2014; Epub.
  5. Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies.
  6. Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD), 2018. World Wide Web URL: https://omim.org/.
  7. National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; 2013 Sep 16 [cited 2018 Mar 13]. Available from: https://ghr.nlm