Neurofibromatosis 2 - Ambry Genetics

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Neurofibromatosis 2

Neurofibromatosis 2 (NF2) is characterized by benign tumors on the nerve that carries sound and balance information from the inner ear to the brain. These tumors affect both ears, often leading to partial or complete hearing loss. People with NF2 may also develop other types of benign brain or spinal tumors.

Neurofibromatosis 2 (NF2) is characterized by benign tumors on the nerve that carries sound and balance information from the inner ear to the brain. These tumors affect both ears, often leading to partial or complete hearing loss. People with NF2 may also develop other types of benign brain or spinal tumors.

NF2 coding exons and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of NF2 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.

Genes analyzed

9024

Neurofibromatosis 2 (NF2)

5-14 days

1 Gene

Neurofibromatosis 2 (NF2)

1 Gene

NF2

Test Requisition Form

Neurology

Consent

Patient

Mutation Detection Rate

>99.9%

Neurofibromatosis 2

can detect the described mutations in NF2, when present (analytic sensitivity).*

Test Description

NF2 coding exons and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Potentially homozygous variants, variants in regions complicated by pseudogene interference, and variant calls not satisfying depth of coverage and variant allele frequency quality thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of NF2 using the multiplex ligation-dependent probe amplification (MLPA) kit is also performed.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.