MITF - Waardenburg syndrome type 2A
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- panel Melanoma, basic (CDKN2A, CDK4, MITF p.(Glu318Lys)¹
- panel Melanoma, basic (CDKN2A, CDK4, MITF p.(Glu318Lys)¹
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (% *)
- WES hearing impairment (including GJB2) (% *)
- WES hereditary cancer (% *)
- WES Mendelian inherited disorders (% *)
- WES skin disorders¹ (% *)
- WES vision disorders (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
156845
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
PAX3 - Waardenburg syndrome type 1/3
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (% *)
- WES hearing impairment (including GJB2) (% *)
- WES Mendelian inherited disorders (% *)
- WES orofacial clefting (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
606597
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SNAI2 - Waardenburg syndrome, type 2D
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is also part of the following panels:
- WES comprehensive preconception carrier test ¹
- WES craniofacial anomalies (% *)
- WES hearing impairment (including GJB2) (% *)
- WES Mendelian inherited disorders (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
For SNAI2 only deletions have been described. If only a heterozygous deletion is detected, sequence analysis can subsequently be performed.
OMIM:
602150
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SOX10 - Waardenburg syndrome, type 2E
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is often ordered in combination with:
This product is also part of the following panels:
- WES craniofacial anomalies (% *)
- WES Disorders/differences of sex development (DSD) / Primary adrenal insufficiency (% *)
- WES hearing impairment (including GJB2) (% *)
- WES hypogonadotropic hypogonadism (Kallmann) (% *)
- WES intellectual disability (% *)
- WES liver disorders (% *)
- WES Mendelian inherited disorders (% *)
- WES movement disorders (% *)
- WES neuropathies¹ (% *)
- WES skin disorders¹ (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
602229
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
panel Waardenburg syndrome MLPA (PAX3, MITF, SOX10)
This test is available for the following conditions:
- Conditions > Hearing impairment > Waardenburg syndrome
This product is often ordered in combination with:
- MITF - Waardenburg syndrome type 2A
- PAX3 - Waardenburg syndrome type 1/3
- SOX10 - Waardenburg syndrome, type 2E
Turnaround time
8 weeks
Method
- Deletion/duplication analysis (MLPA)
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane