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Interdisciplinary CompetenceMolecular Diagnostics

Know how in the analysis of genetic material.
For the benefit of patients.

Illness"Prenatal test panel, Sweden"

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Summary

Short information

A specially designed panel for reproductive medicine and prenatal diagnostics comprising 7 guide-line curated genes.

ID

PP9000

Number of genes

7 Accredited laboratory test

Examined sequence length

9,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)
Gewebeprobe

Diagnostic indications

NGS + X

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
CFTR	4443	602421	NM_000492.4	AR
FMR1	1899	309550	NM_002024.6	XL
GJB2	681	121011	NM_004004.6	AD, AR, digenisch
HBA1	429	141800	NM_000558.5	AD, AR
HBA2	429	141850	NM_000517.6	AR
HBB	444	141900	NM_000518.5	AD, AR
SMN1	885	600354	NM_000344.4	AR

Informations about the disease

Synonyms

Allelic: Bronchiectasis with/-out elevated sweat chloride 1, modifier of (CFTR)
Allelic: Erythrocytosis 6 (HBB)
Allelic: Erythrocytosis 7 (HBA1, HBA2)
Allelic: Heinz body anemia (HBA2)
Allelic: Heinz body anemia (HBB)
Allelic: Heinz body anemias, alpha- (HBA1)
Allelic: Hereditary persistence of fetal hemoglobin (HBB)
Allelic: Hypertrypsinemia, neonatal (CFTR)
Allelic: Malaria, resistance to (HBB)
Allelic: Methemoglobinemia, alpha type (HBA1)
Allelic: Methemoglobinemia, beta type (HBB)
Allelic: Pancreatitis, hereditary (CFTR)
Allelic: Sweat chloride elevation without CF (CFTR)
Allelic: Vohwinkel syndrome (GJB2)
Bart-Pumphrey syndrome (GJB2)
Congenital bilateral absence of vas deferens (CFTR)
Cystic fibrosis (CFTR)
Deafness, AD (GJB2)
Deafness, AR 1A (GJB2)
Delta-beta thalassemia (HBB)
Fragile X syndrome (FMR1_CCG)
Fragile X tremor/ataxia syndrome (FMR1_CCG)
Hemoglobin H disease, deletional + nondeletional (HBA2)
Hemoglobin H disease, nondeletional (HBA1)
Hystrix-like ichthyosis with deafness (GJB2)
Keratitis-ichthyosis-deafness syndrome (GJB2)
Keratoderma, palmoplantar, with deafness (GJB2)
Premature ovarian failure 1 (FMR1_CCG)
Sickle cell anemia (HBB)
Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
Thalassemia, alpha- (HBA2)
Thalassemia, beta (HBB)
Thalassemia-beta, dominant inclusion-body (HBB)
Thalassemias, alpha- (HBA1)

Heredity, heredity patterns etc.

AD
AR
XL
digenisch

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined