Blood Disorders

Analysis of all known genes associated with blood disorders

Our diagnostic panel for the diagnosis of hematopoietic defects and disorders of the hematologic system covers various diseases, including erythrocyte defects, anemias, coagulation disorders, congenital hematopoietic disorders in the bone marrow, and iron storage diseases. For example, megaloblastic anemias, which occur due to disorders in DNA synthesis in the bone marrow, can be examined with the BLD02 gene set. Their cause may be a deficiency of folic acid or cobalamin (VitB12), which can be caused by gene defects or inadequate intake or processing of these vitamins. We cover bone marrow failure in young patients with the BLD05 gene set, which includes Fanconi anemia and DNA repair defects with pancytopenia. Early and accurate diagnosis is vital for optimal medical care and transplant strategy, especially in severe cases.

The Diagnostic Panel for Blood Disorders is based on our proprietary, high-quality ExomeXtra® enrichment, covering all protein-coding regions as well as intronic and intergenic variants described as disease-relevant in the databases HGMD and ClinVar. In addition, the ExomeXtra® enrichment enables a genome-wide CNV calling with similar performance to array CGH. It thus provides the ideal basis for genetic diagnostics.

Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly advise you!

What We Offer with the Panel for Blood Disorders

Highest Quality

The panel covers 245 genes, divided into five different gene sets

Flexibility

Gene sets can be requested individually or in combination with other gene sets

Sensitivity

> 99.9% for heterozygous variant; average coverage > 140x

Comprehensive Medical Report

Created by our interdisciplinary team of experts

Our Promise to You

Fast Turnaround Time

2–4 weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Clearly prepared medical report

Your Benefits

It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis by additional genes for differential diagnosis. We report variants of unknown significance (ACMG class 3) and pathogenic and probably pathogenic variants (ACMG classes 4 and 5) for the primarily ordered gene set. For the genes included due to differential diagnosis, we restrict the reporting to pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.

The Diagnostic Panel for Blood Disorders is based on CeGaT’s ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.

In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.

Method

The enrichment of the coding regions and the adjacent intronic regions is performed using an in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High-throughput sequencing is performed on our Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.

Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.

Sample Report

Information: The example report on epilepsy and brain development disorders illustrates how a report is structured.

General Information

Material

  • 1-2 ml EDTA blood (recommended sample type) or
  • 1-2 µg genomic DNA
  • Order Form with declaration of consent

Here you can find more information on how to ship your sample safely.

Costs

The prices for our human genetic diagnostics depend on the size of the selected diagnostic panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

Gene Sets — Blood Disorders

Defects of the Erythrocytes and Anemia (BLD01, 69 Genes)

incl. spherocytosis, elliptocytosis,  stomatocytosis, erythrocytosis, enzyme defects, sideroblastic/ dyserythropoietic / hypochromic microcytic / anemia

ABCB7, ABCG5, ABCG8, AK1, ALAS2, ALDOA, ANK1, ATP11C, BPGM, CD59, CDAN1, CDIN1, COL4A1, CYB5R3, DHFR, DNASE2, EGLN1, EPAS1, EPB41, EPB42, EPO, EPOR, G6PD, GATA1, GCLC, GLRX5, GPI, GSR, GSS, HBA1, HBA2, HBB, HBG2, HK1, HSPA9, JAK2, KCNN4, KIF23, KLF1, LARS2, LCAT, LPIN2, MT-ATP6, MTHFD1, NDUFB11, NT5C3A, PFKM, PGK1, PIEZO1, PKLR, PUS1, RHAG, SEC23B, SH2B3, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC30A10, SLC4A1, SPTA1, SPTB, TMPRSS6, TPI1, TRNT1, UMPS, VHL, XK, YARS2

Bleeding Disorders: Coagulopathies, Hemophilia and (Macro-) Thrombocytopenias (BLD03, 66 Genes)

incl. Hemophilia, (Macro-) Thrombocytopenias and Thrombocytopathy (functional platelet defects)

ACTB, ACTN1, ADAMTS13, ANKRD26, ANO6, ARPC1B, CD36, CYCS, DIAPH1, ETV6, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8 (intronic inversions not covered), F9, FGA, FGB, FGG, FLI1, FLNA, FYB1, GALE, GATA1, GFI1B, GGCX, GNE, GP1BA, GP1BB, GP6, GP9, HOXA11, IKZF5, ITGA2B, ITGB3, KDSR, LMAN1, MCFD2, MECOM, MPIG6B, MPL, MYH9, NBEAL2, P2RY12, PRKACG, RASGRP2, RUNX1, SERPINE1, SERPINF2, SLC35A1, SLFN14, SRC, STIM1, TBXA2R, TBXAS1, THPO, TPM4, TUBB1, VKORC1, VWF, WAS, WIPF1

Bleeding Disorders with Thrombophilia and Thrombocythemia (BLD04, 15 Genes)

The common variants in F2 and F5 can also be ordered separately via our single-gene order form

ADAMTS13, CALR, CD55, F2, F5, F9, HRG, JAK2, MPL, PROC, PROS1, SERPINC1, SERPIND1, THBD, THPO

Bone Marrow Failure Syndromes (BLD05, 104 Genes)

Incl. Fanconi anemia
Providing an extra sample from non-hematopoetic tissues should be considered for this subpanel

ACD, ADA2, ADH5, ALDH2, ATR, BLM, BRCA1, BRCA2, BRIP1, CTC1, DCLRE1B, DKC1, DNAJC21, DUT, EFL1, ERCC4, ERCC6L2, EXOC3L2, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FERMT1, GATA1, GATA2, GRHL2, HEATR3, HOXA11, IKZF1, LIG4, LYST, MAD2L2, MDM4, MECOM, MPIG6B, MPL, MYSM1, NAF1, NHP2, NOP10, NPM1, PALB2, PARN, POT1, RAD51, RAD51C, RBSN, RECQL4, RFWD3, RMRP, RPA1, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, SAMD9, SAMD9L, SBDS, SLC19A2, SLC30A7, SLC46A1, SLX4, SMARCAL1, SRP54, SRP72, STN1, TCN2, TERC, TERT, THPO, TINF2, TP53, TSR2, TYMS, UBE2T, USB1, WAS, WIPF1, WRAP53, XRCC2, ZCCHC8

Hemochromatosis with Early Onset and Disorders with Primary Iron Overload (9 Genes, BLD06)

Bone marrow failure syndromes
incl. Fanconi anemia. Providing an extra sample from non-hematopoietic tissues should be considered for this subpanel

BMP6, CP, HAMP, HFE, HJV, SLC11A2, SLC40A1, TF, TFR2

Gene Directory — Panel for Blood Disorders

ABCB7, ABCG5, ABCG8, ACD, ACTB, ACTN1, ADA2, ADAMTS13, ADH5, AK1, ALAS2, ALDH2, ALDOA, ANK1, ANKRD26, ANO6, ARPC1B, ATP11C, ATR, BLM, BMP6, BPGM, BRCA1, BRCA2, BRIP1, CALR, CD36, CD55, CD59, CDAN1, CDIN1, COL4A1, CP, CTC1, CYB5R3, CYCS, DCLRE1B, DHFR, DIAPH1, DKC1, DNAJC21, DNASE2, DUT, EFL1, EGLN1, EPAS1, EPB41, EPB42, EPO, EPOR, ERCC4, ERCC6L2, ETV6, EXOC3L2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FERMT1, FGA, FGB, FGG, FLI1, FLNA, FYB1, G6PD, GALE, GATA1, GATA2, GCLC, GFI1B, GGCX, GLRX5, GNE, GP1BA, GP1BB, GP6, GP9, GPI, GRHL2, GSR, GSS, HAMP, HBA1, HBA2, HBB, HBG2, HEATR3, HFE, HJV, HK1, HOXA11, HRG, HSPA9, IKZF1, IKZF5, ITGA2B, ITGB3, JAK2, KCNN4, KDSR, KIF23, KLF1, LARS2, LCAT, LIG4, LMAN1, LPIN2, LYST, MAD2L2, MCFD2, MDM4, MECOM, MPIG6B, MPL, MT-ATP6, MTHFD1, MYH9, MYSM1, NAF1, NBEAL2, NDUFB11, NHP2, NOP10, NPM1, NT5C3A, P2RY12, PALB2, PARN, PFKM, PGK1, PIEZO1, PKLR, POT1, PRKACG, PROC, PROS1, PUS1, RAD51, RAD51C, RASGRP2, RBSN, RECQL4, RFWD3, RHAG, RMRP, RPA1, RPL11, RPL15, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, RTEL1, RUNX1, SAMD9, SAMD9L, SBDS, SEC23B, SERPINC1, SERPIND1, SERPINE1, SERPINF2, SH2B3, SLC11A2, SLC19A2, SLC25A38, SLC2A1, SLC30A10, SLC30A7, SLC35A1, SLC40A1, SLC46A1, SLC4A1, SLFN14, SLX4, SMARCAL1, SPTA1, SPTB, SRC, SRP54, SRP72, STIM1, STN1, TBXA2R, TBXAS1, TCN2, TERC, TERT, TF, TFR2, THBD, THPO, TINF2, TMPRSS6, TP53, TPI1, TPM4, TRNT1, TSR2, TUBB1, TYMS, UBE2T, UMPS, USB1, VHL, VKORC1, VWF, WAS, WIPF1, WRAP53, XK, XRCC2, YARS2, ZCCHC8

Additional Services

HLA-Typing (HLA01)

HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5)

ACMG Genes

Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics). Details on genes and associated diseases can be found here.

Pharmacogenetics

Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.

The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.

The pharmacogenetics option analyzes known variants in twenty-two genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.

Downloads

Order Form BLD
Sample Report EPI

* The example report on epilepsy and brain development disorders illustrates how a report is structured.

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Diagnostic Support

We will assist you in selecting the diagnostic strategy – for each patient.

Keimbahn Team der CeGaT