Diamond-Blackfan anemia other diagnostic studies: Difference between revisions
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* mitochondrial sequencing | * mitochondrial sequencing | ||
*Diagnosis of related-therapies complications: | ===Other tests=== | ||
**Monitoring Transfusional | *Additional [[blood tests]] or genetic tests such as [[exome sequencing]], [[genome sequencing]], and [[mitochondrial]] [[sequencing]] may be ordered to rule out other types of [[anemia]] or other disorders. | ||
***Total T3 | *Diagnosis of related-therapies complications such as iron overload: | ||
***Total T4 | **Monitoring [[Transfusional]] [[iron overload]] with serum [[ferritin]] and [[Iron]] level. Here is a list of recommended labs to monitor and prevent the devastating effects of [[iron overload]] in the thyroid, heart, and the effects of diabetes: | ||
***TSH | ***[[Total T3]] | ||
***T3 uptake (instead of free T4) | ***[[Total T4]] | ||
***IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake) | ***[[TSH]] | ||
***NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure) | ***[[T3 uptake]] (instead of [[free T4]]) | ||
***Antithyroid Abs (Antithyroglobulin and | ***[[IGF-1]](monitors acute fluctuations in insulin action and determines inadequate [[insulin]] treatment or poor control of dietary intake) | ||
***Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons) | ***[[NT-proBNP]] (aids in the [[diagnosis]] of [[left ventricular dysfunction]] in [[heart failure]]) | ||
***Vitamin D | ***[[Antithyroid]] [[Antibodies|Abs]] ([[Antithyroglobulin antibody|Antithyroglobulin]] and [[Antithyroperoxidase]]) | ||
***[[Fructosamine]] (useful in situations where the [[A1C]] cannot be reliably measured – as with transfused persons) | |||
***[[Vitamin D]] | |||
==References== | ==References== | ||
Revision as of 02:13, 26 September 2020
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Overview
Additional blood tests or genetic tests such as exome sequencing, genome sequencing, and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders.
Diamond-Blackfan anemia other diagnostic studies
Other genetic tests:
- exome sequencing
- genome sequencing
- mitochondrial sequencing
Other tests
- Additional blood tests or genetic tests such as exome sequencing, genome sequencing, and mitochondrial sequencing may be ordered to rule out other types of anemia or other disorders.
- Diagnosis of related-therapies complications such as iron overload:
- Monitoring Transfusional iron overload with serum ferritin and Iron level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes:
- Total T3
- Total T4
- TSH
- T3 uptake (instead of free T4)
- IGF-1(monitors acute fluctuations in insulin action and determines inadequate insulin treatment or poor control of dietary intake)
- NT-proBNP (aids in the diagnosis of left ventricular dysfunction in heart failure)
- Antithyroid Abs (Antithyroglobulin and Antithyroperoxidase)
- Fructosamine (useful in situations where the A1C cannot be reliably measured – as with transfused persons)
- Vitamin D
- Monitoring Transfusional iron overload with serum ferritin and Iron level. Here is a list of recommended labs to monitor and prevent the devastating effects of iron overload in the thyroid, heart, and the effects of diabetes: