Collect

Blood sample in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temp

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 ml

Minimum Required

1.5 ml

Phlebotomy Draw

Yes

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Thirty genes known to be associated with inherited thrombocytopenia are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 30 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • Inherited thrombocytopenia, Sitosterolemia, Bernard-Soulier Syndrome, Platelet type von-Willebrand disease, Glanzmann thrombasthenia, bleeding disorder, platelet-type 16, BDPLT16, Wiscott-Aldrich syndrome, X-linked thrombocytopenia
  • ITCPP
  • ACTN1, ABCG5, ABCG8, ANKRD26 including 5'UTR, AP3B1, CYCS, DIAPH1, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA1, ITGA2B, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SRC, SRP72, TPM4, TRPM7, TUBB1, WAS,

LIS Mnemonic

ITCPP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Inherited Thrombocytopenia Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with inherited thrombocytopenia. Inherited thrombocytopenia can be associated with a variety of genetic syndromes and or can have only hematologic manifestations. These heterogenous group of disorders are characterized by low platelet counts typically less than 150,000/uL, however can vary between individuals. Frequent symptoms associated with inherited thrombocytopenia may include purpura, prolonged bleeding, epistaxis, excessive bleeding after surgery, hemoptysis, hematuria, and menorrhagia in women. While some individuals present symptoms beginning in the newborn period, some individuals may present with mild symptoms may remain undiagnosed until adulthood. Some types of inherited thrombocytopenia are associated with predisposition to acute myelogenous leukemia (AML) or myelodysplastic syndromes (MDS).

Detection Rate

The diagnostic yield for comprehensive NGS panels is not yet well-established, and depends on the panel's gene content and the patient's clinical features. Estimated detection rates are provided for pathogenic variants in the genes on this panel that can be identified by gene sequencing for probands meeting the clinical diagnostic criteria for specific disorders:

Sitosterolemia: ~35% associated with ABCG5; ~65% associated with ABCG8 pathogenic variants [PMID: 22981120, 20521169]
Inherited thrombocytopenia: ~4.2% in ACTN1, % [PMID: 25361813]
Bernard-Soulier Syndrome + Platelet type von-Willebrand disease: Associated with GP1BA, GP1BB, GP9, detection rate unkown
Glanzmann thrombasthenia and bleeding disorder, platelet-type 16 (BDPLT16): Pathogenic variants in ITGA1, ITGA2B in 69-98% cases [PMID: 25827233]
Wiskott-Aldrich syndrome, X-linked thrombocytopenia: ~95% detection of pathogenic variants in the WAS gene

Molecular Testing Notes

Conditions associated with inherited thrombocytopenia can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The Inherited Thrombocytopenia Panel includes the following 30 genes: ACTN1, ABCG5, ABCG8, ANKRD26 including 5'UTR, AP3B1, CYCS, DIAPH1, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA1, ITGA2B, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SRC, SRP72, TPM4, TRPM7, TUBB1, and WAS.

CPT Codes

81402, 81404, 81406, 81749
Collection

Collect

Blood sample in an EDTA (purple-top) tube.

Storage/Transport Temperature

Room Temp

Performed

Monday-Friday 9:00am - 4:00pm

Volume Required

3-5 ml

Minimum Required

1.5 ml

Phlebotomy Draw

Yes
Ordering

Performed

Monday-Friday 9:00am - 4:00pm

Methodology

Thirty genes known to be associated with inherited thrombocytopenia are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 30 genes and 20 base pairs of 5' and 3' flanking intronic sequences are analyzed. All known intronic mutations of these genes are also evaluated. Pathogenic/likely pathogenic variants detected by NGS are confirmed by Sanger sequencing.
The panel also evaluates gross copy number variations of these genes by analyzing NGS data. Pathogenic/likely pathogenic CNVs detected by NGS are confirmed by MLPA and/or ddPCR. Certain genes or exons may not be evaluated for gross copy number variations, such as genes with no known gross deletion/duplication mutations, or genes or exons with pseudogenes or highly homologous sequences in the genome.

Reported

42 days

Synonyms

  • Inherited thrombocytopenia, Sitosterolemia, Bernard-Soulier Syndrome, Platelet type von-Willebrand disease, Glanzmann thrombasthenia, bleeding disorder, platelet-type 16, BDPLT16, Wiscott-Aldrich syndrome, X-linked thrombocytopenia
  • ITCPP
  • ACTN1, ABCG5, ABCG8, ANKRD26 including 5'UTR, AP3B1, CYCS, DIAPH1, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA1, ITGA2B, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SRC, SRP72, TPM4, TRPM7, TUBB1, WAS,

LIS Mnemonic

ITCPP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Inherited Thrombocytopenia Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with inherited thrombocytopenia. Inherited thrombocytopenia can be associated with a variety of genetic syndromes and or can have only hematologic manifestations. These heterogenous group of disorders are characterized by low platelet counts typically less than 150,000/uL, however can vary between individuals. Frequent symptoms associated with inherited thrombocytopenia may include purpura, prolonged bleeding, epistaxis, excessive bleeding after surgery, hemoptysis, hematuria, and menorrhagia in women. While some individuals present symptoms beginning in the newborn period, some individuals may present with mild symptoms may remain undiagnosed until adulthood. Some types of inherited thrombocytopenia are associated with predisposition to acute myelogenous leukemia (AML) or myelodysplastic syndromes (MDS).

Detection Rate

The diagnostic yield for comprehensive NGS panels is not yet well-established, and depends on the panel's gene content and the patient's clinical features. Estimated detection rates are provided for pathogenic variants in the genes on this panel that can be identified by gene sequencing for probands meeting the clinical diagnostic criteria for specific disorders:

Sitosterolemia: ~35% associated with ABCG5; ~65% associated with ABCG8 pathogenic variants [PMID: 22981120, 20521169]
Inherited thrombocytopenia: ~4.2% in ACTN1, % [PMID: 25361813]
Bernard-Soulier Syndrome + Platelet type von-Willebrand disease: Associated with GP1BA, GP1BB, GP9, detection rate unkown
Glanzmann thrombasthenia and bleeding disorder, platelet-type 16 (BDPLT16): Pathogenic variants in ITGA1, ITGA2B in 69-98% cases [PMID: 25827233]
Wiskott-Aldrich syndrome, X-linked thrombocytopenia: ~95% detection of pathogenic variants in the WAS gene

Molecular Testing Notes

Conditions associated with inherited thrombocytopenia can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. The Inherited Thrombocytopenia Panel includes the following 30 genes: ACTN1, ABCG5, ABCG8, ANKRD26 including 5'UTR, AP3B1, CYCS, DIAPH1, ETV6, FLI1, FLNA, GATA1, GFI1B, GP1BA, GP1BB, GP9, HOXA11, ITGA1, ITGA2B, MPL, MYH9, NBEAL2, PRKACG, RBM8A, RUNX1, SRC, SRP72, TPM4, TRPM7, TUBB1, and WAS.
Result Interpretation
Administrative

CPT Codes

81402, 81404, 81406, 81749