Skip to content
Use your HSA or FSA funds

Condition report · Hematological

Inherited Megaloblastic Anemia

Rare recessive conditions in which red blood cells are large and immature because the body cannot make the building blocks of DNA properly, despite normal vitamin B12 and folate intake. Inherited cobalamin (B12) disorders and thiamine-responsive anaemia are covered in other reports.

A condition report looks for rare variants known to cause the conditions it covers.

Included in Premium and Premium + AI

Premium adds $99 per kit for the first year.

Order with Premium

The 2 conditions we analyse

Dihydrofolate Reductase Deficiency

Autosomal recessive

A recessive condition caused by changes in DHFR, causing megaloblastic anaemia in infancy and, in some people, seizures and other neurological problems due to low folate in the brain.

What a diagnosis changes

Treatment with folinic acid can correct the anaemia and may improve neurological symptoms.

Genes analysed

Also known as

DHFR deficiency; megaloblastic anaemia due to dihydrofolate reductase deficiency

MONDO:0013456OMIM 613839Orphanet 319651MedGen 462555

Hereditary Orotic Aciduria

Autosomal recessive

A recessive condition caused by changes in UMPS, in which a block in making pyrimidines causes megaloblastic anaemia that does not respond to vitamin B12 or folate, with orotic acid crystals in the urine and sometimes developmental delay.

What a diagnosis changes

Uridine triacetate replaces the missing pyrimidines and corrects the anaemia.

Genes analysed

Also known as

orotate phosphoribosyltransferase and OMP decarboxylase deficiency; orotic aciduria II (formerly); orotic aciduria type 1; orotic aciduria without megaloblastic Anaemia; oroticaciduria; oroticaciduria 1; orotidylic decarboxylase deficiency; UMP synthtase deficiency; UMPS; uridine monophosphate synthetase deficiency

Includes 1 related subtype ↓
  • orotic aciduria without megaloblastic anemia
MONDO:0009797OMIM 258900Orphanet 30MedGen 472940

Other hematological conditions

All conditions →

One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

Premium adds $99 per kit for the first year.

Order with Premium