Chromosomal Microarray Analysis (CMA) Patient Test Information OPTIMIZED TEST DESIGN Ambry tests are created to maximize yield, minimize turn-around-time and control costs through step-wise testing when appropriate. the genome, chromosomes, and dna The human genome contains a complete set of genetic information for humans. This information is packaged as DNA sequences into 23 pairs of chromosomes. Each parent contributes one chromosome to each of the 23 pairs, so that half of the person’s genetic material is inherited from each parent. Each chromosome contains many genes that are responsible for producing the proteins that are the building blocks of our bodies. what is chromosomal microarray analysis? Genomic imbalances, such as gains or losses of chromosomes or portions of chromosomes, are a known underlying cause of developmental delay, intellectual disability, autism spectrum disorders (ASD), dysmorphic features, birth defects or other congenital anomalies and numerous genetic syndromes. Chromosomal Microarray Analysis compares a patient’s DNA with reference (control) DNA to detect gains or losses of genomic material on all 23 chromosome pairs in a single test. what are the advantages of microarray testing? The main advantages include the ability to evaluate all 23 chromosome pairs in a single test and to detect genetic imbalances at a superior resolution compared to traditional chromosome analysis (karyotyping). INSURANCE Ambry is contracted with the majority of commercial insurances and Medicare. All out-of-network patients are treated as innetwork to minimize out-of-pocket costs. Medicaid coverage varies by state and pre-verification is recommended. PATIENT PROTECTION PLAN If patient out-of-pocket financial responsibility is potentially greater than $100, Ambry will contact the patient for verbal approval prior to initiating the test. We remain committed to working with you and your patients to make the genetic testing process as simple and cost effective as possible. STAFF SUPPORT Board certified medical doctors and genetic counselors are available to assist with test selection and result interpretation. Microarrays will detect small genomic imbalances that cannot be detected with traditional chromosome analysis. Ambry’s arrays detect genetic losses of ~100 kb (100,000 base pairs) and genetic gains of ~300kb (300,000 base pairs) while traditional chromosome analysis cannot detect imbalances of less than ~4Mb (4,000,000 base pairs). CUSTOMER SERVICE Responsive and knowledgeable representatives are always ready to answer any questions. Easy-to-read reports. Free sample submission kits. Microarray also provides a 5 times greater diagnostic yield over chromosome analysis (15-20% versus 3%) for testing of individuals with unexplained developmental delay, intellectual disability, autism spectrum disorder or multiple congenital anomalies.1 ABOUT AMBRY GENETICS who should undergo testing? In 14 years of offering genetic testing services, we’ve performed hundreds of thousands of genetic tests and identified more than 45,000 mutations in greater than 500 different genes. Chromosomal Microarray Analysis should be considered for all individuals with syndromic or nonsyndromic conditions that may be caused by genomic imbalance. Microarrays are widely accepted by the medical community and the test’s superior resolution led the American College of Medical Genetics (ACMG) to publish guidelines recommending microarray as a first-tier test in pediatric medicine. Individuals with previous chromosome analysis studies (karyotype) may also benefit from the superior resolution of microarray, especially those with: • Normal chromosome analysis results, as traditional chromosome analysis is limited to imbalances >4Mb • Apparently balanced rearrangements (inversions/translocations) that may be unbalanced when analyzed at a higher resolution what are the benefits to the individual undergoing testing? • Disorders diagnosed through microarray may have clinical features that require medical attention and/or referral to a specialist. • If the variant(s) identified during testing include genes that are associated with specific health concerns, the results may help guide treatment. • It may be important to determine if a genetic imbalance exists, especially when the individual and/or family members are considering future pregnancies. • Support groups may exist for individuals with certain genetic imbalances. what is the difference between the two microarrays ambry offers? D0714-09-204-MKG-00 15 Argonaut, Aliso Viejo, CA 92656 Toll Free 866 262 7943 Fax 949 900 5501 ambrygen.com 1 Chromosomal Microarray Analysis (CMA) Patient Test Information specimen requirements Ambry has designed the 180K Oligo Array to detect aneuploidies, well-characterized microdeletion or microduplication syndromes and subtelomeric or other unbalanced chromosomal DNA rearrangements. The SNP+CGH Array is an enhanced test option that also detects of runs of homozygosity and uniparental disomy (UPD). UPD is associated with conditions such as Beckwith-Wiedemann and Prader-Willi/Angelman syndromes. Runs of homozygosity may indicate a familial relationship between parents of the individual being tested and raises the possibility of a recessive disorder. Your clinician will determine which test options is most appropriate. how do I request testing for myself or my child? Blood: Blood is preferred (only a single tube is needed). Ship at room temperature. Saliva: Properly stored from previous testing is accepted. Store and ship at room temperature. DNA: Properly stored from previous testing is accepted. Store frozen and ship on ice or dry ice. Speak to your clinician (primary care physician, pediatrician, neurologist, geneticist, or genetic counselor) about the potential benefits of microarray testing. Ambry’s staff includes board certified medical doctors and genetic counselors that are available to assist your clinician with test selection and result interpretation. Your clinician can download a General Test Requisition and Preverification Form or order Chromosomal Microarray Submission Kits free of charge from Ambry’s website. how long will it take to obtain results? Results usually take 10 – 21 days, depending on which test is ordered. Ambry will provide results to the ordering clinician via fax and mail and also offers an option to obtain results through our secure online portal, AmbryPort®. Results may be provided to you by your geneticist or alternatively, you may receive a preliminary result from the ordering clinician and then, if necessary, be referred to a geneticist. what will the test report say? If variants (gains or losses of genomic material) are found, they will be classified into categories according to their likelihood of causing disease. When possible, a clear statement of clinical significance will be included in the interpretation section of the report. Some variants may be classified as variants of unknown significance (VUS). If certain conditions are met, Ambry will provide complimentary parental analysis. Generally, if variants of unknown significance are also present in parental samples, this decreases the likelihood of the variant causing disease. what if the test report does not detect any variants? Ambry offers ExomeNext, a complex genetic test that sequences and analyzes all ~20,000 genes in the human genome in addition to sequencing and screening for characterized mutations in the mitochondrial genome (mtDNA). Your clinician/geneticist can advise whether this test may be an appropriate next step. 1. Miller DT, et al. (2010) “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.” Am J Hum Genet 86: 749–764 2. Manning M and Hudgins L, et al (2010) “Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities” American College of Medical Genetics Practice Guidelines. D0714-09-204-MKG-00 15 Argonaut, Aliso Viejo, CA 92656 Toll Free 866 262 7943 Fax 949 900 5501 ambrygen.com 2
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