Distal Renal Tubular Acidosis, Autosomal Recessive, RTADR | مركز البرج للتشخيص الوراثي

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Distal Renal Tubular Acidosis, Autosomal Recessive, RTADR

Disease/Test Name	Gene Name & Method	Diagnostic Value	Turn Around Time	Price
Distal Renal Tubular Acidosis, Autosomal Recessive, RTADR	ATP6V0A4 (ATP6N1B) Whole Gene Analysis	x	4-5 Months
Distal Renal Tubular Acidosis with Progressive Nerve Deafness	ATP6V1B1 (ATP6B1) Whole Gene Analysis	x	4-5 Months

Disease Name (Synonym)	Disease OMIM	Inheritance	Gene			Gene OMIM	Locus	Protein
- RTA, Distal, Autosomal Recessive - Renal Tubular Acidosis, Autosomal Recessive, with Preserved Hearing - Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late Onset Sensorineural Hearing Loss	602722	Autosomal Recessive	ATP6V0A4 (ATP6N1B)			605239	7q34	ATPase, H+ Transporting, Lysosomal V0 Subunit A Isoform 4
			DNA	CDS	Exon
			91.00 kb	3354 bp	21
- Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness - Renal Tubular Acidosis with Progressive Nerve Deafness RTA with Progressive Nerve Deafness	267300	Autosomal Recessive	ATP6V1B1 (ATP6B1)			192132	2p13	ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 1
			DNA	CDS	Exon
			29.00 kb	1542 bp	14

Sample	Volume	Tube	Transport	Unacceptable Conditions	Remarks
Blood^EDTA	5 ml	Lavender-top	18-24 C⁰	Frozen, hemolyzed specimens	The sample should be send with written consent of the patient.

آخر تحديث يوم الخميس, 21 أبريل/نيسان 2011 17:01