81470 X-linked intellectual disability (XLID) (eg, syndromic and non-syndromic XLID); genomic sequence analysis panel, must include sequencing of at least 60 genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, OCRL,

Name of the Procedure:

X-linked Intellectual Disability (XLID) Genomic Sequence Analysis Panel
Common name(s): XLID Gene Panel Testing
Technical term: Next-Generation Sequencing (NGS) Panel for XLID

Summary

The XLID genomic sequence analysis panel is a specialized genetic test that examines at least 60 genes related to X-linked intellectual disability (XLID). This test identifies mutations in these genes, helping to diagnose both syndromic (with additional physical symptoms) and non-syndromic (intellectual impairment only) forms of XLID.

Purpose

This test is used to identify genetic mutations that cause XLID. The primary goal is to diagnose the cause of intellectual disability in affected individuals, providing insights for management and treatment.

Indications

• Symptoms of intellectual disability without a known cause
• Positive family history of XLID
• Male patients showing developmental delays or intellectual impairments
• Presence of additional physical symptoms suggesting a syndromic form of XLID

Preparation

• No special preparation like fasting is usually required.
• Genetic counseling is recommended prior to the test.
• Family history and previous medical records may be reviewed.

Procedure Description

1. Sample Collection: Typically, a blood sample is drawn from the patient.
2. DNA Extraction: DNA is extracted from the sample.
3. Sequencing: Next-generation sequencing (NGS) technology is used to sequence the DNA and analyze at least 60 target genes, including ARX, ATRX, CDKL5, FGD1, FMR1, HUWE1, IL1RAPL, KDM5C, L1CAM, MECP2, MED12, MID1, and OCRL.
4. Data Analysis: Bioinformatics tools analyze the sequence data to identify mutations.
5. Report Generation: A detailed report with findings is compiled and reviewed.

Duration

The actual sequencing process takes a few hours; however, the total turnaround time, including data analysis and report generation, is usually 4-6 weeks.

Setting

This procedure is carried out in specialized genetic testing laboratories.

Personnel

• Geneticist or genetic counselor for initial consultation
• Phlebotomist for blood sample collection
• Laboratory technicians and molecular geneticists for DNA extraction, sequencing, and data analysis

Risks and Complications

• Minimal risk associated with blood draw (e.g., bruising, infection at the puncture site)
• Psychological impact from receiving a genetic diagnosis

Benefits

• Precise identification of genetic mutations causing XLID
• Informs treatment and management plans
• Helps in genetic counseling for family planning

Recovery

• No physical recovery needed as the procedure involves only a blood draw.
• Psychological support may be necessary after receiving results.

Alternatives

• Whole exome sequencing (WES)
• Whole genome sequencing (WGS)
• Targeted mutation analysis if a specific mutation is suspected

Patient Experience

• The patient may feel a slight prick during the blood draw.
• Waiting for results might be a period of anxiety; supportive counseling is recommended.
• Once results are available, a discussion with a genetic counselor will help in understanding the findings and subsequent steps.