Blackfan-Diamond anemia

OMIM:
105650
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Blackfan-Diamond anemia – Sequencing Panel
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RPL11 – Gene sequencing
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RPL11 – Mutation-specific testing
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RPL35A – Gene sequencing
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RPL35A – Mutation-specific testing
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RPL5 – Gene sequencing
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RPL5 – Mutation-specific testing
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RPS10 – Gene sequencing
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RPS10 – Mutation-specific testing
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RPS17 – Gene sequencing
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RPS17 – Mutation-specific testing
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RPS19 – Gene sequencing
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RPS19 – Mutation-specific testing
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RPS24 – Gene sequencing
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RPS24 – Mutation-specific testing
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RPS7 – Gene sequencing
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RPS7 – Mutation-specific testing