FREQUENTLY ASKED QUESTIONS
What can you tell us about the human genome?
The human genome is the complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. In other words, all of the person DNA (coding and non-coding regions).
· 15% of the disease-causing genes are found in the non-coding regions.
· The diagnostic yield for the whole genome sequencing is higher than whole-exome sequencing
What is an Exome?
An exome is the functional part of the DNA that contains protein-coding regions. It accounts for approximately 2% of the total amount of the DNA (Genome).
What is DNA Sequencing?
DNA sequencing is the process of determining the precise order of nucleotides within a DNA molecule. It includes any method that is used to determine the order of the four bases—adenine, guanine, cytosine, and thymine—in a strand of DNA.
DNA from patients may be sequenced to determine if there is a risk of genetic diseases or it may be used to learn more about the genome of the organism as a whole and to identify specific areas of interest and concern.
What is Exome Sequencing (WES)?
The exome sequencing is the genetic test that analysis all the exomes (functional protein-coding regions) approximately 22000 that form human exomes
What is Whole Genome Sequencing (WGS)?
The whole-genome sequencing is genetic test that analysis the coding(functional) and non-coding regions of the DNA
When should a Whole Exome Sequencing (WES)/ Whole Genome Sequencing (WGS) considered?
WES and WGS may be considered in a number of situations:
· Family history of genetic disease
· Patient has an atypical or uncommon presentation
· When the previous genetic tests did not yield answers
· When the other genetic tests didn’t find answers
· Patients clinical features suggest a genetic disorder
· The disease could be caused by a larger number of genes
· Results from the exome sequencing may inform medical treatment, determine risks for patients and family members and end the need for additional costly or invasive tests and procedures.
Who can order a WES/WGS testing?
A licensed medical practitioner or a licensed health care practitioner with required credentials.
How long does it take get a WES/WGS report?
For the WES it takes 4-6 weeks and for WGS it takes 6 weeks
Will these tests be covered by insurance? Yes, please contact us at 484-534-9311 or email us at support@mitoswab.com. We will work with you to check eligibility of your benefits and preauthorization. It may involve an out of the pocket expense.
We don’t accept Medicaid or managed Medicaid insurance.
If not qualified through insurance how can we do it?
Please contact us for pricing and out of pocket maximum.
What type of samples do you accept?
We accept the following samples:
· Blood spot dried
· Buccal Swab
· Saliva
· Whole Blood
Can I get the raw data?
Yes, a data release form needs to be signed. Raw data will be sent to you through a secure hard drive or a platform.
What is a Trio?
It is the proband (patient) and the biological parents (both affected and unaffected) are tested.
What is the cost of the test and if my insurance will reimburse for the test?
We are an in-network provider for Medicare and an out of network provider most of the major insurance carriers. Please contact us for further details.
We will work you to check your eligibility of benefits. Your insurance may cover the test based on the clinical condition. We suggest that we get it preauthorized. We will require deposit to process the sample. There is a coinsurance/copay required for all the genetic tests.
Do you confirm all findings?
Yes, all the findings are confirmed.