* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Download March 1, 2005 - Ambry Genetics
Frameshift mutation wikipedia , lookup
Genetic drift wikipedia , lookup
DNA paternity testing wikipedia , lookup
Quantitative trait locus wikipedia , lookup
Gene expression programming wikipedia , lookup
Genomic library wikipedia , lookup
Heritability of IQ wikipedia , lookup
Genome evolution wikipedia , lookup
Pathogenomics wikipedia , lookup
Neuronal ceroid lipofuscinosis wikipedia , lookup
Behavioural genetics wikipedia , lookup
Metagenomics wikipedia , lookup
Gene therapy wikipedia , lookup
Site-specific recombinase technology wikipedia , lookup
Human genetic variation wikipedia , lookup
Artificial gene synthesis wikipedia , lookup
History of genetic engineering wikipedia , lookup
Population genetics wikipedia , lookup
Genetic engineering wikipedia , lookup
Whole genome sequencing wikipedia , lookup
Pharmacogenomics wikipedia , lookup
Genetic testing wikipedia , lookup
Public health genomics wikipedia , lookup
Genome (book) wikipedia , lookup
Designer baby wikipedia , lookup
Microevolution wikipedia , lookup
Insurance Company Name Address City, State Date of claim Re: Ambry Genetics Corporation, Letter of Medical Necessity for Whole Exome Sequencing (WES) Patient First, Last Name DOB ID Number Dear Medical Director, This letter is in regards to my patient and your subscriber, First, Last Name to request full coverage for exome sequencing to be performed by Ambry Genetics Corporation (TIN 33-0892453 / NPI 1861568784), a CAP-approved and CLIA-certified laboratory located at 15 Argonaut, Aliso Viejo, CA 92656. In 2012, the American College of Medical Genetics (ACMG) published a statement regarding the clinical application of genomic sequencing, stating; “The ACMG recognizes that genomic sequencing approaches can be of great value in the clinical evaluation of individuals with suspected germline genetic disorders…results will provide an explanation for a patient’s phenotype by identifying a mutation in a gene known to be associated with the patient’s clinical condition or in a gene that is highly likely to be causative given current knowledge” (Genet Med. 2012 14, 759-761). The ACMG recommends exome sequencing for the following indications: The phenotype or family history data strongly implicate a genetic etiology, but the phenotype does not correspond with a specific disorder for which a genetic test targeting a specific gene is available on a clinical basis A patient presents with a defined genetic disorder that demonstrates a high degree of genetic heterogeneity, making WES or whole genome sequencing (WGS) analysis of multiple genes simultaneously a more practical approach A patient presents with a likely genetic disorder but specific genetic tests available for that phenotype have failed to provide a diagnosis A fetus with a likely genetic disorder in which specific genetic tests, including targeted sequencing tests, available for that phenotype have failed to arrive at a diagnosis As such, First, Last Name has a suspected diagnosis of /history of Disease Name due to the following symptoms and clinical findings: seizure, myopathy, migraine, ptosis, neuropathy, autism spectrum disorder, mental retardation, mitochondrial disorder, lactic acidosis and cardiomyopathy. Patient Name has undergone a series of tests with uninformative results, listed here: SNP-array, comparative genomic hybridization, karyotype and fragile X _____________ gene sequencing for suspected _________________________________ syndrome _____________ gene panel sequencing for suspected ____________________________ syndrome Biochemical/ imaging studies for suspected ___________________________________ syndrome Consultations specialists including geneticists, oncologists, ophthalmologists, or __________________________________all with the goal of uncovering the underlying diagnosis Due to the heterogeneous nature of this patient’s symptoms, WES using next generation sequencing technology is the most effective method to simultaneously analyze the majority of the genes in the genome. Genetic testing will be performed through Ambry Genetics Corporation given its long-standing experience with next-generation sequencing, consistent variant analysis, detailed results reporting and continuous support from highly trained medical directors and genetic counselors. Ambry's WES is a robust test that consists of sequencing the functionally relevant region of 20,000 genes in the human body. It is the most cost-effective and comprehensive method to rapidly detect the underlying cause in patients afflicted with genetic disease, as 85% of genetic mutations with large clinical consequences occur within the exome. We have seriously considered First, Last Name underlying diagnosis, and while we think that it is highly likely that he/she has an inherited syndrome, at the present time we cannot recognize a specific entity. The overall clinical picture and the rarity of this individual’s symptoms raise concern that a mutation in a gene may be missed by individual or panel gene sequencing. First, Last Name previous negative test results increase the likelihood for a mutation in a gene that is not included on available single gene or multi-gene panels. Likewise, in the absense of informative results we will not be able to provide the family with a diagnosis or appropriate recommendations for management. The WES is needed to determine the nature of First, Last Name condition and determine appropriate medical interventions and therapies in a timely fashion. First, Last Name, his/her family and his/her medical providers have significant concerns regarding his/her as yet undiagnosed condition. A diagnosis can aid in determining the best course of treatment, identification of necessary medical referrals to specialists, potential presymptomatic screening for associated complications, eliminating unnecessary testing, appropriate educational planning and patient advocacy, anticipatory guidance and support group referrals for families, family reproductive planning, carrier testing and prenatal diagnosis. SUMMARY OF DIAGNOSIS - ICD-9 CODES (INPUT ALL THAT APPLY) – (USE V CODES FOR SECONDARY DX) 277.9 Unspecified disorder of 319 Unspecified intellectual disability 742.9 Uns anomaly brain or nervous system metabolism 330.8 Other cerebral degener childhood 756.0 Anomalies of skull and face bones 334.9 Unspecified spinocerebellar disease 759.7 Multple congenital anomalies 345.4 Focal epilepsy with complex seizures/ 781.3 Hypotonia, hypotonicity 299.00 Autism, current infantile or childhood 315.39 Other developmental speech disorder 315.9 Unsp delay in development partial epilepsy with complex seizures 783.41 Failure to thrive 345.6 Infantile spasms 783.42 Delayed milestones 345.9 Epilepsy unspecified Others ____________________________ I recommend that you support this request for coverage of WES for my patient. Genetic testing can take up to 8 months to complete and the laboratory will not bill until testing is concluded. Therefore, we are requesting that the authorization be valid for 12 months. Thank you for your time and please don’t hesitate to contact me with any questions. Sincerely, Ordering Clinician Signature ________________________________ Date ______________ (MD/DO, Clinical Nurse Specialist, Nurse-Midwives, Nurse Practitioner, Physician Assistant, Genetic Counselor*) *Authorized clinician requirements vary by state