Home » Otorhinolaryngology
- Otorhinolaryngology
Approximately 80% of prelingual deafness has a genetic origin and, to date, more than 6,000 alterations causing Non Syndromic Hypoacusis and more than 400 syndromes with hearing loss have been identified. Genetic studies make it possible to identify the cause of hearing loss and facilitate genetic counseling to the family, establishing the pattern of inheritance and indicating the probability of transmission.
All genes included in each of our targeted exomes are clinically highly relevant and have been selected from information contained in reference databases such as OMIM, HGMD, ClinVar and HPO, and in the most recent scientific literature.
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- EDTA blood (1x 5 ml)
- Saliva (specific Isohelix kit)
- Buccal exudate (2x sterile isopes)
- Isolated DNA (>30 ng/μl in >100 μl)
Remember to label each sample with the patient's first and last name or with the identifier used on the request form.
Home » Otorhinolaryngology
- Otorhinolaryngology
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.
- Otorhino
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
CHARACTERISTICS
Delivery time: 35-45 days
DESCRIPTION
More than 400 syndromes with hearing loss are known, making their genetic study complex. That is why we offer a general study of different syndromes that cause hearing loss, as well as the study of the most frequent syndromes independently.
CHARACTERISTICS
Delivery time: 35-45 days
Other services
DESCRIPTION
We offer different diagnostic possibilities based on exome sequencing, including the Clinical Exome study and the Trio Exome for familial cases.
DESCRIPTION
We perform studies involving the analysis of a single gene, both by Sanger sequencing and NGS.
DESCRIPTION
We use the MLPA technique (Multiplex Ligation-dependent
Probe Amplification) for the identification of deletions/duplications or methylation alterations in a
methylation alterations in a specific gene or region.