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{{Diamond-Blackfan anemia}} | {{Diamond-Blackfan anemia}} | ||
==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 | |||
*Diagnosis of related-therapies complications: | |||
**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 | |||
==References== | ==References== | ||
Revision as of 00:15, 8 August 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
- Diagnosis of related-therapies complications:
- 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: