Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Authors of this article are:
Akesson LS, Eggers S, Love CJ, Chong B, Krzesinski EI, Brown NJ, Tan TY, Richmond CM, Thorburn DR, Christodoulou J, Hunter MF, Lunke S, Stark Z,0.
A summary of the article is shown below:
Rapid genomic testing is a valuable new diagnostic tool for acutely unwell infants, however exome sequencing does not deliver clinical-grade mitochondrial genome sequencing and may fail to diagnose mitochondrial disorders caused by mitochondrial DNA (mtDNA) variants. Rapid mitochondrial genome sequencing and analysis are not routinely available in rapid genomic diagnosis programmes. We present two critically ill neonates with transfusion-dependent anaemia and persistent lactic acidosis who underwent rapid mitochondrial genome sequencing in tandem with exome sequencing as part of an exome sequencing-based rapid genomic diagnosis programme. No diagnostic variants were identified on examination of the nuclear exome data for either infant. Mitochondrial genome sequencing identified a large mtDNA deletion in both infants, diagnosing Pearson syndrome within 74 and 55 h, respectively. Early diagnosis in the third week of life allowed the avoidance of a range of other investigations and appropriate treatment planning. Rapid mitochondrial genome analysis provides additional diagnostic and clinical utility and should be considered as an adjunct to exome sequencing in rapid genomic diagnosis programmes.
Check out the article’s website on Pubmed for more information:
This article is a good source of information and a good way to become familiar with topics such as: .
NativeFolder: The Only Bacterial Culture Medium for the Expression of Soluble Proteins
-
- Sale!
- Molecular Biology, Research Kits
NativeFolder Bacterial Culture Medium
- $350.00 – $19,500.00
- Select options
Interference Test Kit for Assay Validation
-
- Sale!
- Interference, Research Kits
Interference Test Kit
- Original price was: $595.00.$395.00Current price is: $395.00.
- Add to cart
Rheumatoid Factor Interference Blocker
-
- Sale!
- Antibodies, Interference
Rheumatoid Factor Interference Blocker
- Original price was: $595.00.$395.00Current price is: $395.00.
- Add to cart
New Antibodies from MOLECULAR DEPOT
-
- Sale!
- Antibodies
Antibody to Thyroxine T4 Monoclonal
- Original price was: $995.00.$495.00Current price is: $495.00.
- Add to cart
-
- Antibodies
SAA Antibody Monoclonal Anti-Serum Amyloid A
- $350.00 – $1,550.00
- Select options
-
- Antibodies
Valproic Acid Antibody (Mouse Monoclonal)
- $250.00 – $1,095.00
- Select options
-
- Antibodies
Phenytoin Antibody (Mouse Monoclonal)
- $350.00 – $1,450.00
- Select options
-
- Sale!
- Antibodies
Anti Sheep IgG (H+L) Rabbit Polyclonal
- $250.00 – $1,495.00
- Select options
-
- Sale!
- Antibodies
Anti Human IgM Antibody Polyclonal
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Antibodies
Myoglobin Antibody (Human Affinity Purified)
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Antibodies, Interference
Rheumatoid Factor Interference Blocker
- Original price was: $595.00.$395.00Current price is: $395.00.
- Add to cart
-
- Sale!
- Antibodies, Interference
HAMA Blocking Reagent (Affinity Purified)
- Original price was: $895.00.$450.00Current price is: $450.00.
- Add to cart
New Proteins from MOLECULAR DEPOT
-
- Sale!
- Proteins, Conjugates
Tacrolimus BSA Conjugate Solution
- Original price was: $695.00.$495.00Current price is: $495.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Cholesterol Oxidase from Streptomyces sp.
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Proteins
Aprotinin from Bovine Lung (Lyophilized powder)
- Original price was: $450.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Proteins, Enzymes
Beta-galactosidase Enzyme Donor
- Original price was: $795.00.$450.00Current price is: $450.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Beta-galactosidase Enzyme Acceptor
- Original price was: $795.00.$375.00Current price is: $375.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Xanthine Oxidase Grade II (Lyophilized Powder)
- Original price was: $695.00.$395.00Current price is: $395.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Ascorbate Oxidase (Lyophilized Powder)
- Original price was: $350.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Proteins
Silk Fibroin (Bombyx Mori Silkworm)
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Proteins
Fibrinogen from Bovine Plasma Lyophilized
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Enzymes, Proteins
Horseradish Peroxidase Biotinylated
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
New Chemicals from MOLECULAR DEPOT
-
- Sale!
- Chemicals, Interference, Lipids
Triglyceride Mix for Interference Testing
- Original price was: $495.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Chemicals
Microparticle Stabilizer Solution
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Enzyme Acceptor Stabilization Buffer
- Original price was: $495.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Enzyme Donor Stabilization Buffer
- Original price was: $495.00.$250.00Current price is: $250.00.
- Add to cart
-
- Sale!
- Chemicals, Conjugates
Progesterone Biotin Conjugate Solution
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Activation Buffer
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Washing Buffer
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Blocking Buffer
- Original price was: $650.00.$350.00Current price is: $350.00.
- Add to cart
-
- Sale!
- Buffers & Solutions, Chemicals
Microparticle Anti Aggregation Agent
- Original price was: $595.00.$295.00Current price is: $295.00.
- Add to cart
-
- Sale!
- Chemicals
CPRG (Chlorophenol red-β-D-galactopyranoside)
- Original price was: $850.00.$395.00Current price is: $395.00.
- Add to cart