Collect

Blood sample in an EDTA (purple-top) tube. Saliva is also acceptable.

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

Fifty-two genes known to be associated with red blood cell disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 52 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

28 days

Synonyms

  • RBCDP
  • ABCB7, ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, C15ORF41, CDAN1, EPB41, EPB42, G6PD, GATA1, GCLC, GLRX5, GPI, GPX1, GSR, GSS, HK1, KCNN4, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, SEC23B, SLC25A38, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1, XK
  • anemia
  • reticulocytopenia
  • jaundice
  • splenomegaly
  • congenital anomalies
  • hemolytic anemia
  • Diamond-Blackfan anemia

LIS Mnemonic

RBCDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Inherited Red Blood Cell Disorder Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with disorders affecting red blood cell enzymatic pathways, cell membrane structure and elasticity, and ribosomal proteins.

Clinical symptoms associated with red blood cell disorders can include anemia, reticulocytopenia, jaundice, splenomegaly, and various congenital anomalies.

Pathogenic variants in at least 52 genes are associated with these disorders, and identification of a causative pathogenic variant is a key component of the diagnostic evaluation for patients suspected of having an inherited RBC disorder.

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:

Diamond-Blackfan anemia: ~50-60% [PMID: 20301769]

Molecular Testing Notes

Inherited red blood cell disorders can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner.
The Inherited Red Blood Cell Disorder Panel includes the following 52 genes: ABCB7, ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, C15ORF41, CDAN1, EPB41, EPB42, G6PD, GATA1, GCLC, GLRX5, GPI, GPX1, GSR, GSS, HK1, KCNN4, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, SEC23B, SLC25A38, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1, and XK.

CPT Codes

81405x2, 81479
Collection

Collect

Blood sample in an EDTA (purple-top) tube. Saliva is also acceptable.

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

Fifty-two genes known to be associated with red blood cell disorders are analyzed using Next Generation Sequence (NGS) technology. All coding exons of the 52 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

28 days

Synonyms

  • RBCDP
  • ABCB7, ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, C15ORF41, CDAN1, EPB41, EPB42, G6PD, GATA1, GCLC, GLRX5, GPI, GPX1, GSR, GSS, HK1, KCNN4, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, SEC23B, SLC25A38, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1, XK
  • anemia
  • reticulocytopenia
  • jaundice
  • splenomegaly
  • congenital anomalies
  • hemolytic anemia
  • Diamond-Blackfan anemia

LIS Mnemonic

RBCDP

Performed By

Division of Genomic Diagnostics

Available STAT

No

Clinical Features

The Inherited Red Blood Cell Disorder Panel is a next generation sequencing panel designed to identify underlying genetic variants associated with disorders affecting red blood cell enzymatic pathways, cell membrane structure and elasticity, and ribosomal proteins.

Clinical symptoms associated with red blood cell disorders can include anemia, reticulocytopenia, jaundice, splenomegaly, and various congenital anomalies.

Pathogenic variants in at least 52 genes are associated with these disorders, and identification of a causative pathogenic variant is a key component of the diagnostic evaluation for patients suspected of having an inherited RBC disorder.

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:

Diamond-Blackfan anemia: ~50-60% [PMID: 20301769]

Molecular Testing Notes

Inherited red blood cell disorders can be inherited in an autosomal recessive, autosomal dominant, or X-linked manner.
The Inherited Red Blood Cell Disorder Panel includes the following 52 genes: ABCB7, ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, C15ORF41, CDAN1, EPB41, EPB42, G6PD, GATA1, GCLC, GLRX5, GPI, GPX1, GSR, GSS, HK1, KCNN4, KIF23, KLF1, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, RHAG, RPL11, RPL15, RPL19, RPL26, RPL27, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, SEC23B, SLC25A38, SLC2A1, SLC4A1, SPTA1, SPTB, TPI1, and XK.
Result Interpretation
Administrative

CPT Codes

81405x2, 81479