Get the free Clinical Exome Sequencing - Clinical History Form - CHLA

Children's Hospital Los Angeles Alexander R. Judging, MD Department of Pathology & Laboratory Medicine PathologistinChief and Laboratory Director Phone: 323.361.2423, 877.543.9522 Fax: 323.361.6157

How to fill out clinical exome sequencing

How to fill out clinical exome sequencing

1. Gather all relevant medical records and patient information
2. Choose a certified clinical laboratory that offers exome sequencing services
3. Contact the chosen laboratory to discuss the cost and requirements
4. Provide a blood or saliva sample from the patient
5. The laboratory will extract the DNA from the sample and perform exome sequencing
6. Wait for the laboratory to analyze the data and generate a clinical report
7. Review the clinical report with a qualified medical geneticist or genetic counselor
8. Discuss the findings, potential diagnoses, and possible treatment options

Who needs clinical exome sequencing?

1. Individuals with undiagnosed genetic disorders
2. Patients with suspected genetic conditions that have not been confirmed
3. Families with a history of inherited diseases
4. Individuals with unexplained developmental delays or intellectual disabilities
5. Patients with multiple congenital anomalies or birth defects
6. Individuals with atypical clinical presentations or phenotypes
7. Patients who have not responded to other types of genetic testing
8. Children with global developmental delay or autism spectrum disorder
9. Individuals who want to know their genetic predisposition to certain diseases

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What is clinical exome sequencing?

Clinical exome sequencing is a genetic test that reads and analyzes the complete set of protein-coding regions in an individual's genome.

Who is required to file clinical exome sequencing?

Patients with suspected genetic disorders or healthcare providers looking for a genetic diagnosis may be required to order clinical exome sequencing.

How to fill out clinical exome sequencing?

Clinical exome sequencing is typically ordered by a healthcare provider and performed by a specialized laboratory. Results are then interpreted by a genetic counselor or healthcare provider.

What is the purpose of clinical exome sequencing?

The purpose of clinical exome sequencing is to identify genetic variations that may be responsible for a patient's medical condition or risk of disease.

What information must be reported on clinical exome sequencing?

Reports from clinical exome sequencing typically include identified genetic variants and their potential implications for the patient's health.