Neurology gene panel
This DNA test is currently available by appointment only. Please contact Merogenomics using link below.
A neurology gene panel DNA test assesses specific DNA code sites for an interpretation related to intellectual disability, autism spectrum disorder or epilepsy.
In order to obtain the DNA testing kit under medical supervision (required), the purchased test includes a bill to be presented at your selected clinic. Test prices can vary between different medical clinics. PATHOGENIC RESULTS WILL REQUIRE A GENETIC COUNSELING SESSION PRIOR TO MEDICAL MANAGEMENT.
Clients will also be given a checklist of topics to facilitate informed consent. Test purchase should take place after consultation with a Merogenomics representative in order for the client to be best prepared for informed consent. Informed consent and education towards its understanding will be required by the clinic. IF YOU HAVE NOT CONSULTED MEROGENOMICS ABOUT YOUR DNA TEST PLEASE BOOK A FREE APPOINTMENT USING THE LINK BELOW PRIOR TO TEST PURCHASE!
All international or Canadian clients in a region without a supported medical clinic, please book a meeting with Merogenomics to discuss the use of your preferred local doctor.
- Gene panel sequencing provides the overview of alterations in an individual’s DNA code in select genes related to neurological conditions including epilepsy, as well as autism spectrum disorders and intellectual disability neurodevelopmental disorders
- This test is used for clinical purposes and should not be regarded as investigational or for research
- The test must be ordered by a medical doctor who will oversee the clinical report based on the DNA sequence interpretation
- The test is for persons with a suspected genetic and undiagnosed condition, and is used when an unclear condition cannot readily be linked to a clinical diagnosis, or for patients with a clinical diagnosis requiring further refinement for personalized medical management based on genetic diagnosis
- This test is not to diagnose neurocutenous disorders associated with brain tumors. Please refer to the "Cancer DNA tests" section for available test options
- This test is not to diagnose any other inherited suspected genetic condition or to obtain pharmacogenetic information. Please refer to the “Full genome sequencing” option for a diagnostic test with the most comprehensive view of alterations in an individual’s DNA code, including pharmacogenetics information and secondary findings
- Anonymized patient/client clinically-relevant information will be included in public databases to help with the future medical analysis of human genomes. Databases contain cumulative results from around the world and do not include information that can personally identify the patient/client
- The test might not provide a diagnosis if either the causes of the condition are not genetic in nature, or the causative variant is not identified. Even with a successful DNA diagnosis, it is possible that the information might not help in predicting a prognosis or change medical management or the treatment of disease
- The test can be paid for directly by the patient/client. Insurance billing is available and can be investigated up-front to determine out-of-pocket expenses. Institutional billing is also available for organizations that prefer to bill patients/clients directly
- Merogenomics provides background education towards patient/client informed consent
- The collection kit can be for a saliva or a blood sample, with prepaid shipping included
- Services are fully insured, and are HIPAA, CLIA and CAP compliant
- The results are available within 4-6 weeks. A selection of more targeted panels is available in 10-21 days
- A concise clinical report is delivered to the ordering doctor only, and then subsequently discussed and shared with the patient/client. The report lists variants associated with an increased risk of neurological conditions with known genetic components
- Previous medical information of the patient/client already collected by the ordering physician will be incorporated into the analysis
- The databases used for DNA sequence interpretation are regularly updated, and novel findings pertaining to currently unknown variants identified in a patient/client will be delivered to the ordering physician who will be continuously notified for the duration of the DNA data’s storage by the company
- To clarify or confirm a diagnosis to point to appropriate medical management such as tailored treatment options and avoid unnecessary and potentially invasive testing
- To obtain an improved understanding of the prognosis and screening recommendations
- One can potentially be released from unnecessary clinical surveillance
- The discovery of a pathogenic variant (a DNA change that is capable of causing disease), in the patient/client allows for the screening of additional closely-related family members for the same pathogenic variant at no additional charge. Conditions may apply
- Patient/client data is securely stored on cloud for subsequent re-analysis
- The entire process closely follows the Canadian and American guidelines, therefore there is a high level of proper accountability for the clinic
- Biological sample quality can influence the scope and quality of the final decoded DNA sequence data, and therefore its interpretation
- FMR1 repeat expansion testing and Angelman/Prader-Willi methylation analysis are not included as part of the gene panel, but can be ordered concurrently
- If a new gene or variant is added to a panel, the previous information cannot be updated for that particular gene or variant if the patient/client has not been tested for it in the first place. Therefore to capture any novel DNA sequence information, the patient/client would have to retake the test
- It is possible that previously unidentified variants with clinical implications might be present in the selected genes that are not investigated by the test due to incomplete DNA sequence analysis, therefore a negative result cannot rule out the possibility that the patient carries an unexamined mutation
- False positive results can occur and all clinically relevant identified alterations are recommended to be validated by separate technology
- The test does not detect alterations which are not caused by a change in the DNA sequence, such as gene expression, epigenetic modifications, fusion, or chromosome conformational changes
- The interpretation will be limited to the current state of scientific knowledge of how DNA changes lead to a disease. This scientific knowledge can also contain mistakes
- Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances. Cultured fibroblasts will be required instead
- Psychological consequences can be severe with high risk individuals and patients/clients should be screened prior to testing
- The test does not consider somatic alterations (non-inherited DNA changes acquired post-birth throughout one’s lifetime)
- The test has not been cleared or approved by the US Food and Drug Administration. The FDA does not require this test to go through a premarket FDA review
- All tests offered through Merogenomics require a physician to sign a test requisition for regulatory compliance reasons. Once the requisition form is signed by the doctor, the ordering doctor does not have to participate in the process until the receipt of the test results
- Merogenomics can provide detailed background information to the ordering physician about the test process. Merogenomics also provides additional education towards patient/client informed consent
- Sequencing guidelines recommend chromosomal microarray as the first-tier for genetic testing for autism spectrum disorders as well as for intellectual disabilities, with a fragile X syndrome DNA analysis as a test-along option. Contact Merogenomics for test access
- FMR1 repeat expansion testing and Angelman/Prader-Willi methylation analysis are not included as part of the gene panel and must be ordered separately
- In case of a clear diagnosis, more targeted panels are available as a first-tier gene panel approach to reduce the chance of secondary or uncertain findings, which can be followed by specified reflex options
- Chromosomal microarray with whole exome sequencing, or full genome sequencing without microarray, can be selected instead of gene panel testing to increase detection rates
- The test results should be interpreted in context with any other available patient/client clinical findings
- It is recommended by sequencing guidelines that the patient/client undergoes genetic counseling prior and after clinical DNA testing
- The DNA sequencing and interpretation takes place in a CLIA/CAP certified laboratory
- Patient data is HIPAA compliant, securely stored on cloud for continuous re-analysis, and never sold or shared with third-party companies
- The ordering physician will be the recipient of the gene panel sequencing analysis clinical report. The patient/client will not obtain these results independent of the ordering physician. Merogenomics will not have access to the patient/client report, but can review the report after the receipt of the data if requested by the patient/client
- The report is designed with doctors in mind and will be divided into the following sections:
- The first page will have condensed summary listing all of the clinically relevant results and will be listed as follows:
- Pathogenic or likely pathogenic results – the information requiring the utmost attention spanning the entire genome
- Variants of unknown significance – DNA changes currently without evidence of clinical impacts
- Structural variants – large scale DNA changes such as gross deletions or duplications
- A summary of the results and their interpretation
- A list of the genes analyzed in the panel
- The final pages are devoted to the methods of testing and the limitations of the procedure
- The first page will have condensed summary listing all of the clinically relevant results and will be listed as follows:
- Samples cannot be accepted if the patient/client has undergone an allogenic transplant such as bone marrow or a peripheral stem cell transplant. A history of hematological disease might exclude test availability in certain circumstances
- For cancer patients undergoing chemotherapy treatment, the DNA quality may be affected if the patient has received treatment in the past 120 days, potentially requiring sample resubmission
- Targeted sequence enrichment is performed using PCR. Either next-generation sequencing or Sanger sequencing of all exons (the gene section that is the code for protein development), and flanking regions of 5’ and 3’ ends of all the introns and untranslated regions and promoter regions of select genes (the DNA regions involved in gene use regulation), is completed
- This test offers over 99.9% sensitivity
- Proprietary methods identify and analyze the following types of variants:
- Small sequence changes:
- Single nucleotide variants (SNVs, alterations that affect only one nucleotide at a time, also termed single nucleotide polymorphisms or SNPs)
- Insertions and deletions (indels under 50 bp)
- Structural variants (DNA alterations that affect large segments of DNA of more than 50 bp, and can include insertions, deletions, or copy number variations or CNVs: the duplication of a particular DNA segment)
- Small sequence changes:
- Identification of structural variants in selected genes are confirmed with multiplex ligation-dependent probe amplification and/or targeted chromosomal microarray
- For clinical genes with related pseudogenes, sequencing is performed to confirm mutation presence in the gene of interest and not in the pseudogene
- Genes investigated: ABCD1, ACSL4, ADNP, ALDH7A1, ALG13, ANKRD11, AP1S2, AP4B1, ARHGEF9, ARID1B, ARX, ATP13A2, ATP1A2, ATP7A, ATRX, BRWD3, CA8, CACNA1A, CACNA1C, CASK, CC2D1A, CDKL5, CHD2, CHD7, CHD8, CHRNA2, CHRNA4, CHRNB2, CLN3, CLN5, CLN6, CLN8, CNTNAP2, CREBBP, CRH, CSTB, CTCF, CTSD, CTSF, CUL4B, DCX, DDX3X, DEPDC5, DHCR7, DLG3, DNAJC5, DNM1, DYNC1H1, DYRK1A, EEF1A2, EHMT1, EPM2A, FGD1, FLNA, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FTSJ1, GABRA1, GABRB3, GABRG2, GAMT, GATM, GDI1, GNAO1, GOSR2, GPC3, GRIA3, GRIN1, GRIN2A, GRIN2B, GRN, HCN1, HDAC8, HNRNPU, HOXA1, HPRT1, HUWE1, IDS, IQSEC2, KAT6A, KATNAL2, KCNA2, KCNC1, KCNJ10, KCNQ2, KCNQ3, KCNT1, KCTD7, KDM5C, KIAA2022, KIF1A, L1CAM, LAMP2, LGI1, LINS, MAN1B1, MAOA, MBD5, MECP2, MED12, MED23, MEF2C, MFSD8, MID1, NDP, NDUFA1, NHLRC1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, NSUN2, OCRL, OFD1, OPHN1, OTC, PACS1, PAK3, PCDH19, PDHA1, PHF6, PHF8, PIGA, PIGN, PLCB1, PLP1, PNKP, PNPO, POGZ, POLG, PORCN, PPT1, PQBP1, PRICKLE1, PRRT2, PTCHD1, PTEN, PTPN11, PURA, RAB39B, RAD21, RAI1, RPL10, RPS6KA3, SATB2, SCARB2, SCN1A, SCN1B, SCN2A, SCN8A, SHANK3, SIK1, SLC13A5, SLC16A2, SLC25A22, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, SMC3, SMS, SNAP25, SPTAN1, ST3GAL3, STX1B, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBL1XR1, TBR1, TCF4, TIMM8A, TPP1, TRAPPC9, TSC1, TSC2, TUSC3, UBE2A, UBE3A, UPF3B, VPS13B, WDR45, ZC4H2, ZEB2
- A patient/client with a variant of unknown significance (DNA changes with limited and/or conflicting evidence regarding pathogenicity), can apply for follow-up testing for select family members at no additional charge in order to help understand the relationship between the variant and the genetic condition. Parental samples can be submitted up-front with the patient/client sample for increased efficiency
- Extracted genomic DNA can also be submitted for sequencing, when it is isolated from a CLIA-certified laboratory or equivalent. Contact Merogenomics to discuss additional alternatives
- Volume discounts are available. Contact Merogenomics for more details
Clinical DNA testing is not a simple straight-forward process compared to commercial, direct-to-physician genetic testing. As a consequence, there are stringent guidelines and criteria that need to be fulfilled in order to ensure that the results of the test, as well as the managing parties involved, are all compliant for subsequent medical oversight.
- The client/patient has a consultation with Merogenomics to fully understand informed consent for Clinical DNA testing.
- All DNA tests promoted by Merogenomics require a doctor to sign a test order. The client/patient can select one of the clinics for DNA testing. This selection allows for online test purchase. Alternatively, any physician can order the test for a client. Merogenomics can provide background about the desired test to any physician interested in signing the test requisition form. For independent doctors, you will need to book a FREE consultation.
- The client picks the DNA test of choice offered by the selected clinic. Alternatively, any DNA test can be selected if ordered by independent doctor.
- The client/patient will have the option to purchase the test in full or apply for financing. An invoice is issued to the patient on behalf of an ordering doctor/clinic, allowing the patient to proceed to a clinic to receive the DNA test kit. The DNA test kit can only be obtained upon proof of payment.
- For independent doctor orders, the invoice can be issued from the DNA test provider.
- The doctor must sign the test requisition form. The ordering doctor is also the doctor who will receive the DNA test results.
- The biological sample containing the client/patient’s DNA must be collected (blood or saliva, depending on DNA test).
- For blood collection, the blood will be either collected at the clinic of the ordering physician, or at an independent blood collection clinic.
- The DNA test kit can be sent by either of the clinics. Sending through an independent blood collection clinic might require extra fee.
- The DNA test kit is received by the test service provider. DNA is isolated from the biological sample, checked for quality and sequenced. The DNA code is analyzed for medical interpretation and a report is generated. The ordering physician can then have access to a clinical interpretation of the DNA code.
- The report is provided to the ordering physician for medical management consideration. The client/patient can only obtain the results from the ordering physician.
- Pathogenic results will require interpretation oversight by a genetic counsellor prior to medical action.
- The client/patient can choose either public or private genetic counselling access.
- The ordering physician determines medical management of the client/patient.
Purchase of the test can be refunded within 30-days of issued invoice date minus $50 processing fee to cover the costs associated with testing kit (even if the kit was not used by the customer). A refund is not available once the sample has been obtained by the laboratory and DNA testing has commenced.
138-8627 91 St NW, Edmonton AB
7609 109 St NW, Edmonton AB
Please contact us if your clinic is interested in providing access to DNA testing.