Mitochondriopathy

mtDNA - mitochondriopathy (cardiomyopathy)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (CPEO)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

OMIM: 157640
Performing laboratory: Radboudumc
Authorized material(s): Muscle biopsy

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mtDNA - mitochondriopathy (deafness )

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (diabetes mellitus)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (encephalopathy)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (gastrointestinopathy)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (Kearns-Sayre)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA from) muscle tissue.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): Muscle biopsy

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mtDNA - mitochondriopathy (Leber)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
EDTA blood. Other tissues are also possible, if in doubt please contact for consultation: +310243614567.
 

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (Leigh)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (MELAS)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (MERRF)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (NARP)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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mtDNA - mitochondriopathy (Pearson)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
EDTA blood, if in doubt please contact for consultation: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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mtDNA - mitochondriopathy (ptosis)

This test is available for the following conditions:

• Conditions > Mitochondrial disorders > Mitochondriopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 6 weeks

Method

• Sequence analysis of complete mtDNA

Remarks
We prefer (DNA) from muscle tissue or cooled (none frozen) morning urine (50-100ml). EDTA blood is possible but gives a chance on false negative results. For more information please contact us: +310243614567.

Performing laboratory: Radboudumc & Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane, Urine, Muscle biopsy

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