U.S. flag

An official website of the United States government

Results: 1 to 20 of 27

Make selection to find tests for any of the checked conditions.[x]
ConditionsSynonyms
Hereditary factor IX deficiency disease
  • Christmas disease
  • F9 DEFICIENCY
  • Factor IX deficiency
  • HEM B
  • Hemophilia B
  • PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY
3-methylcrotonyl-CoA carboxylase 1 deficiency
  • 3 Alpha methylcrotonylglycinuria 1
  • MCC 1 deficiency
  • MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency
  • MCCD TYPE 1
  • METHYLCROTONYLGLYCINURIA TYPE I
3-methylcrotonyl-CoA carboxylase 2 deficiency
  • 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
  • 3 alpha methylcrotonylglycinuria 2
  • MCC 2 deficiency
  • MCCC2-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency
  • METHYLCROTONYLGLYCINURIA, TYPE II
  • Methylcrotonylglycinuria type 2
Hermansky-Pudlak syndrome 1
  • DELTA STORAGE POOL DISEASE
Marinesco-Sjögren syndrome
  • Marinesco-Garland Syndrome
  • Marinesco-Sjogren Syndrome
  • Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism
  • Marinesco-Sjogren Syndrome-Myopathy
  • Marinesco-Sjogren-Garland Syndrome
  • Marinesco-Sjögren syndrome
Hereditary factor VIII deficiency disease
  • AUTOSOMAL HEMOPHILIA A
  • Factor 8 deficiency, congenital
  • Factor VIII deficiency, congenital
  • HEM A
  • Hemophilia A
  • Hemophilia A, congenital
  • Hemophilia, classic
Hermansky-Pudlak syndrome 2
  • Platelet defects and oculocutaneous albinism
Congenital prothrombin deficiency
  • Congenital factor II deficiency
  • Factor II deficiency
  • HYPOPROTHROMBINEMIA
  • Hereditary factor II deficiency disease
  • Inherited hypoprothrombinemia
  • Inherited prothrombin deficiency
Hermansky-Pudlak syndrome 9
Hermansky-Pudlak syndrome 7
Hermansky-Pudlak syndrome 6
Hermansky-Pudlak syndrome 5
Hermansky-Pudlak syndrome 8
Hermansky-Pudlak syndrome 4
Hermansky-Pudlak syndrome 3
Hermansky-Pudlak syndrome 10
Hermansky-Pudlak syndrome
  • Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
Bernard-Soulier syndrome, type A2, autosomal dominant
  • Bernard-Soulier syndrome, type A2 (dominant)
Platelet-type bleeding disorder 18
Hermansky-Pudlak syndrome 11

Results: 1 to 20 of 27

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.